Open Reading Frame – The Books That Caught Genetic Counselors’ Attention in 2016

I have never seen a formal study on the topic, but I am pretty sure that many genetic counselors are voracious readers. Despite the daunting task of trying to stay current with the unending torrent of professional articles fire-hosing at us from all directions, we manage to carve out time to read books of our own choosing. There is deep intellectual and emotional satisfaction in immersing yourself in a book that opens up a whole new way of looking at your professional or personal philosophies, values, and opinions.  Well-constructed, beautifully worded sentences sing off the page and you catch yourself saying “Man, I wish I could write a sentence like that.” How did that writer get inside my head, understand me, and open up parts of myself I didn’t know about? It can be a psychotherapeutic experience.

I occasionally use an e-reader and appreciate its practical qualities. But the physical pleasures of holding a book, moving my book mark around, flipping back and forth between pages, studying the front and back covers, the crisp pristine quality of a brand new hardcover, the wrinkled front cover pages falling out old much read paperback that looks like it has been through several wars all touch some pleasure center in my psyche that no doubt would require psychoanalysis to decipher. I try to keep a book in mint condition so that you can’t even tell it has been read. My wife, on the other hand, attacks a book like a terrier going after a rat, bending the spine, folding pages and otherwise beating the life out of it. Despite 30 years of interventions, I have yet to be able to cure her of this disease.

What do genetic counselors like to read? I decided to find out by asking subscribers to the NSGC general forum what book(s) they read in 2016 that made them say “Hey I bet my colleagues would love this book!” I was going to restrict it only to books published this year, but then I thought, why be so limiting? So the list below includes older and new books, along with comments from the genetic counselors who recommended them. This is just in time to buy a gift for yourself or your favorite colleagues for the holidays or just because we sometimes deserve a gift out of the blue. Want to add a personal favorite? Just add it in the Comments section.

The first four books are my personal recommendations.

Life Histories of Genetic Disease by Andrew Hogan. 2016 Johns Hopkins University Press. Andy Hogan, a superb historian of medical genetics who teaches at Creighton University in Nebraska, explores the historical arc of three genetic diseases – Prader-Willi, fragile X, and DiGeorge or CATCH-all DiShprintzen-Velo-22q or whatever you call it these days – and how their definitions continued to evolve with new genetic testing technologies. These stories are told within the framework of the history, ethos, and goals of the field of Medical Genetics. I particularly enjoyed how he delineates the way that the graphic of the ideogram of the g-banded human karyotype continued to influence the way clinicians and researchers think about genetic diseases even after chromosomal studies began playing a less prominent role in genetic diagnosis.  In my view, the chromosonal ideogram is like the pedigree – the other genetics graphic that shapes how our minds think about hereditary diseases.

The Undoing Project: A Friendship That Changed Our Minds by Michael Lewis. 2017. W.W. Norton and Company. You might start to question why I chose this book when you read the first chapter, which is about how the Houston Rockets basketball team assess the talents and potential of their players. But this clever ploy leads quickly to an exploration of the profound insights into human behavioral psychology developed by the work of the psychologists Amos Tversky and Daniel Kahneman. Just as interesting is the intense, complex relationship between the two men. Their work has had a significant influence in many areas, not the least of which is genetic counseling research into decision-making and coping with risk. Michael Lewis, the author of Moneyball and The Big Short, has a knack for storytelling and beautifully explaining complicated topics.

Orphan – The Quest to Save Children With Rare Genetic Disorders by Philip J. Reilly. 2015. Cold Spring Harbor Laboratory Press. Phil Reilly, the author of The Surgical Solution and other genetics related books, gives us an insider’s view of commercial and research labs that are working on treatments and cures for rare genetic diseases, and most importantly, the day-to-day lives of  people and families coping with the diseases. By the end of the book even a curmudgeon like me found myself wondering what it would be like to work in such a lab and come up with a treatment that makes patient makes even a little bit of difference in patients’ lives. See my full review in The American Journal of Medical Genetics – http://onlinelibrary.wiley.com/doi/10.1002/ajmg.a.37585/full

Blame by Tony Holzman. 2016. Cloud Splitter Press. This novel, by the retired Director for the Genetics and Public Policy Center at Johns Hopkins, examines how a gene therapy trial for Alzheimer’s disease goes terribly awry with the death of an African American woman participating in the trial. The characters are thinly drawn making it confusing to understand their arcs, and the dialogue can be a bit wooden, but they exist mostly to drive the plot. We genetic counselors love to perseverate about the issues that the book raises – complicated workings of IRBs, university politics, conflict of interest, for-profit research, race relations, sexual harassment, poorly interpreted genetic tests, and a HIPAA violation thrown in for good measure.

 

The following are recommendations gleaned from my informal survey on the NSGC General Forum, along with the submitters’ thoughts on why they chose the particular book.

The Gene – An Intimate History by Siddhartha Mukherjee. 2016. Scribner. Like almost everyone I know, I thoroughly enjoyed Siddhartha Mukherjee’s gem, which made the world of genetics lively, complicated, and very, very human. We all know the stories, but they become page-turners through his story-telling lens, campfire ghost stories beautifully crafted and hauntingly memorable. I went around recounting them in a “he tells it so much better” way for days and days afterward. – submitted by  Karlla W. Brigatti, Clinic for Special Children, Strasburg Pennsylvania

Lab Girl by Hope Jahren. 2016. Alfred A. Knopf. This book is an exceptional memoir of a woman’s experience in establishing herself as a scientist, in this case, botany. Ms. Jahren writes eloquently and with humor about her efforts to fund her lab in various universities and the opposition she encounters all along the way. In addition, chapters alternate with scientific discussions of the life cycle of trees, climate change, research initiatives and problems, and her description of her own eccentricities as well as her unusual co-worker’s idiosyncrasies. Everyone I know who has read it has found it fascinating. – submitted by Judy Widmann, retired Genetic Counselor.

News of The World by Paulette Jiles. 2016. William Morrow. The book has nothing to do with science but it is an extraordinary, beautifully written novel.  I don’t remember underlining a book of fiction since college, but I underlined passages in this one. The story takes place in post-Civil War Texas. An elderly gentleman travels to small towns buying up newspapers from around the world. He then rents a hall and reads the news to the townspeople, each customer paying him a dime to listen. Along the way, he is given charge of a 10 year-old white girl who has lived among the Kiowa Indians, having been abducted by the tribe at age 6 after her family was killed. He is to return her to her aunt and uncle in the south of Texas, a journey of several hundred miles. The relationship between these two characters gives the novel its center and significance. – submitted by Judy Widmann, retired genetic counselor.

Far From The Tree – Parents, Children, and The Search for Identity. by Andrew Solomon. 2012. Simon and Schuster. My nomination for any GC’s must-read list is Far from the Tree by Andrew Solomon. This book had me at the intro:
“There is no such thing as reproduction. When two people decide to have a baby, they engage in an act of production, and the widespread use of the work reproduction for this activity, with its implication that two people are but braiding themselves together is at best a euphemism to comfort prospective parents before they get in over their heads.”

What I truly love about genetic counseling is the opportunity to hear people’s stories. Solomon weaves the true shared experiences – good, bad and ugly – of individuals with children who are different with historical context, insights from philosophy and sociology, and personal insights. It’s not always sweet and it’s not always pretty but it is real.

This may not be the most shocking or surprising choice, given that Dr. Solomon was a keynote speaker at NSGC in 2014, but I feel this choice is not without controversy. There are chapters titled “Down Syndrome” and “Prodigies” nestled alongside “Rape” and “Crime.” There is even a chapter titled “Dwarfs” (yuck). I was gently told that trying to assign this 900+ page book to our genetic counseling students was lunacy. But this is a book that I have read, and re-read, and expect to read throughout my life cycle as a genetic counselor. It informs my soul and my work. – submitted by Christine G. Spaeth, Cincinnati Children’s, Cincinnati, Ohio

Small Great Things by Jodi Picoult. Random House. 2016. I’ve always been a fan of Jodi Picoult. In her most recent book, she helps the reader confront issues that permeate the headlines today – prejudice, race, and how the legal system works. Don’t worry, there’s a few genetics-related twists and turns included too! – submitted by Alyson Krokosky, Walter Reed National Military Medical Center, Bethesda, Maryland

Are We Smart Enough To Know How Smart Animals Are?  by Frans de Waal. W. Norton & Company. 2016. Frans de Waal, a leading primatologist, explains how social, smart and altruistic animals are if we only design the correct social experiments to bring out their behavior. I first became interested in Dr. de Waal’s work because he wrote about his observations of a captive Rhesus monkey with Trisomy 18 born in 1988. This monkey was born to a 22 year old G12P11 mother, elderly for this species, where menopause typically occurs at around age 20-25. The mother did not reject her. She was not kicked out of the troop or savagely beaten. Her older sisters helped her forage for food on the ground, until she was euthanized at age 32 months due to intractable seizures. – submitted by Laila Rhee, UC Davis Health System, Department of OB/GYN, Sacramento, California

A Cancer In The Family by Theodora Ross, MD, PhD. 2016. Avery. How do you talk to relatives about family history, especially if they have been reluctant to share in the past? This book gives great how-to’s. The author also praises and recommends working with GC’s. Interestingly the advice she gives about talking to relatives is very similar to what I’m learning from the genealogy community. Genealogists use techniques like those in this book to elicit family stories, starting with oldest relatives first. Since more and more of my patients tell me about their molecular genealogy results, I find this a fascinating tie-in to our profession. – submitted by Kate Crow, MS, CGC, Hereditary Cancer Service, Southern Colorado Centura, Colorado Springs, Colorado

Life, Animated: A Story of Sidekicks, Heroes, and Autism by Ron Suskind. 2014. Kingswell. I really enjoyed the story about how the Suskind family found that Disney movies were being used by their son with autism as a model for how to interact in the real world. submitted by Susan L. Sell, Hershey Medical Center, Department of Pediatrics, Division of Genetics, Hershey, Pennsylvania

Mapping Fate : A Memoir of Family, Risk, and Genetic Research by Nancy Wexler.1996. Univerity of California Press. I’m a little bit late to the game, but I finally read [this book] this year and really enjoyed it.  Alice Wexler tells the story of a thrilling chase to find the Huntington disease gene, which once discovered, would allow for predictive genetic testing of unaffected individuals (unleashing an entire field of gene ethics). She unveils the eventual breakthrough discovery of the gene as the culmination of daring bets and novel scientific approaches. Now, more than 10 years since the Human Genome Project’s completion, with genetic services extending to every rare disease, it is breathtaking to realize how little we knew in 1979, and how far we’ve come today.

As a genetic counselor, I am most moved by Wexler’s deeply personal account of her connection to – and identity in – the Huntington disease world. She allows the reader to experience all the unfinished edges in her story – her contentious relationship with her father, who has a personal and scientific investment in Huntington research; her frustrations with her passive, 1950s-housewife mother; her personal struggle with relationships and infertility in the context of being at-risk. I appreciate that she did not “hero-ify” every character in her memoir, as some do when eulogizing. – submitted by Weiyi Mu, Johns Hopkins University, Institute of Genetic Medicine, Baltimore, MD

Beggars In Spain by Nancy Kress. 1993. William Morrow and Company. Written in 1993, [this book] is surprisingly relevant in the age of CRISPR/Cas9 which has led us to dust off old hopes of treating genetic disease at the source and old fears of taking gene editing too far. The book is based on a society where genetic modifications is available for those who can afford it. A group of children, called Sleepless, do not require sleep to survive. Sleeplessness is associated with other traits such as improved survival and intelligence. Divisions between the sleepless and the sleepers lead to societal divides and touches on the moral questions of what an individual owes to society, what we owe to each other, and what parents owe to their children. – submitted by Rebecca Tryon, Pediatric Blood & Marrow Transplant, Minneapolis

Evicted: Poverty and Profit in the American City by Matthew Desmond. 2016. Crown. I cannot recommend [this book]  highly enough and feel should be required reading for every American citizen who has known nothing but stable housing during their own lifetimes. Equal parts compelling, eye-opening, and heartbreaking, this book illuminates the daily lives of those who struggle to exist within urban poverty at a level that is likely unimaginable to most genetic counselors. What does housing and eviction have to do with genetics you might ask? After more than a decade and a half practicing as a pediatric genetic counselor, I could not even begin to count of the number of no-shows or last-minute cancellations that were disproportionately for children with government healthcare insurance. Although it is just one small storyline in a book of great depth and complexity, an incident is recounted in which a single mother living in poverty and the chaos of eviction with her two sons has to make a decision about getting treatment when one of the boys has an asthma attack. This book depicts with great humanity how complicated and overwhelming even seemingly simple decisions can become when one feels helpless and without hope as the earth seems to be constantly shifting beneath one’s feet. This book offers a powerful and disturbing insight into a plight that is under the national radar, and for me, the insight relevant to children and healthcare was a striking additional nuance. Perhaps “happy reading!” would not be the right sentiment, but I cannot think of a book that is more worthy of reading. – submitted by Stefanie Dugan, Blood Center of Wisconsin, Milwaukee

 

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Summing Up the Consequences of Election 2016: 3 Things That Could Change the Practice of Genetic Counseling

It’s been two weeks, and everyone is sick of hot takes on Life in Trump’s America and What Is the Worst Thing That Could Happen? (um, I’m going with nuclear war, but take your pick). I know, I’m sick of it too. But elections have consequences, and, like climate scientists and immigration lawyers, we need to put some thought into what this could mean for our field.

 

The potential repeal of the Affordable Care Act is a concern for everyone working in health care, as is the threatened dismantling of Medicare. Possibly, critics of the ACA will discover that it is easier to campaign than to govern, and that voting to take away health care from tens of millions of people isn’t as much fun as it was in the good old days when they had the safety net of a presidential veto. But hey I’ve always been a Pollyanna. Too cheerful, that’s me.

 

Point one: prepare to practice in a climate where there is more inequality of access.

 

Chances are, prenatal genetics will be affected by an empowered and emboldened anti-abortion movement.   A president has some limited ability to make access to abortion more difficult through executive orders – President Bush signed regulations that gave everyone in the hospital, including orderlies and cleaning staff, the right to decline to do their job in cases involving abortion – but the main issue is the Supreme Court, where as president Trump will get an opportunity to redefine the balance of right and left if and when any of the reliable supporters of reproductive rights leaves the bench. Ruth Bader Ginsburg turns 84 on March 15th and I know millions of people join me in wishing her a happy birthday and many, many happy returns. The Court’s other octagenarian, Anthony Kennedy, has been behind decisions that chipped away at abortion rights, but has also declined several opportunities to overturn Roe v Wade, and anyone replacing him would almost certainly be more explicitly anti-abortion.

 

When asked last week on Sixty Minutes what would happen if Roe v Wade were overturned, Trump said that control of abortion law would then revert to the states, and that women who wanted an abortion might have to “go to another state.” This is correct (shocking but true) and you can make your own determination about the relative impact that would have on affluent and educated women  versus poor women, and teenagers, and other vulnerable parties.

 

The more complicated truth is that Roe v Wade is not going to disappear overnight, although there is a real and important long term threat. Should further changes create a Supreme Court majority ideologically opposed to abortion, they will have to wait until an appropriate case arises to make any changes. State lawmakers would no doubt be happy to present them with a test case, but making laws takes time, and then there are challenges and lower court decisions and demonstrations and pundits talking on the news before SCOTUS makes an actual decision. Even then, there is the hope that one or another of the anti-abortion faction hesitates to overturn 40+ years of precedent (See? You thought I was joking when I said I was an optimist).

 

A recent Supreme Court decision disallowing TRAP laws (targeted restriction of abortion providers) will stand, and so does the coalition that voided them, at least for now. For the moment, this should limit the chronic deterioration of access to abortion in Southern and Midwestern states that we have seen over the past decade. I believe it remains important to monitor changes that adversely affect our patients’ ability to obtain an abortion related to genetic findings, including decreased coverage, increased cost, logistical obstacles and changes that necessitate travel.

 

Point two: be vigilant about the threat to reproductive rights, but don’t expect dramatic changes in the near term.

 

Here’s something we don’t talk about enough: there is evidence to suggest that prenatal testing itself is likely to be a target of the anti-abortion movement. In fact, it already is. The National Conference of Catholic Bishops issued a directive in 2009 that forbids prenatal diagnosis “if undertaken with the intention of aborting an unborn child with a serious defect.” This decree limits the use of prenatal testing in some Catholic hospitals, a growing segment that includes one in six hospital beds in the country today. Many Catholic institutions including schools and hospitals refuse to pay for insurance plans that cover prenatal testing, restricting availability for all their employees, regardless of their own beliefs.  Other employers with an anti-abortion agenda could do the same thing.

 

More evidence that prenatal testing is on the radar screen of the anti-abortion movement: state laws have been advocated, and in two instances passed, that specifically forbid women from seeking a termination for reasons of genetic defect. These laws don’t get a lot of ink because they are a) unconstitutional (under Roe) and b) virtually impossible to enforce, since they require a prosecutor to prove motivation. This doesn’t mean they are not important. They were written by people whose agenda it is to limit abortion by any means, but they were chosen as a vehicle because they tap into a larger uneasiness about prenatal diagnosis.

 

The laws may not be enforceable, but they are chilling. Abortion is already medicine’s stepchild. Why would doctors or hospital administrators be eager to offer a procedure where they have to think twice about whether or not they could get in legal trouble? And the laws show an intent that could be more fully realized through other means. You may not be able to prove a woman’s intent in seeking an abortion, but you can certainly document a counselor’s intent if he or she offers the option of termination after a prenatal diagnosis. Will we see attempts to limit what can say to our patients? If this seems impossible to you, consider that 35 states currently have script laws detailing what a woman must be told before she can have an abortion, and a number of those require providers to give inaccurate and misleading information. In 6 states, women must be ‘informed’ that personhood begins at conception. In 5 states, women must be ‘informed’ that there is a link between abortion and breast cancer. If they can require us to lie to patients, don’t rule out the possibility that they can forbid us to speak.

 

Advances in prenatal testing are revolutionary.   NIPS is the fastest growing medical test in the history of medical tests. We will continue to see changes that widen the scope of what we can diagnose prenatally and improve our ability to predict outcomes more accurately, and at an earlier phase in pregnancy.  This is going to reduce the incidence of a whole range of genetic conditions — for those who use the  test. But improvements in prenatal diagnosis don’t improve access; in fact, improvements in prenatal diagnosis are fueling the debate over what types of prenatal testing are acceptable. If the courts and the politicians and the public don’t accept the idea that pregnant women have a right to prenatal testing as a part of normal prenatal care, then laws and limits to insurance reimbursement may put it out of reach of many Americans.

 

If prenatal testing is only available people who have enough money, or the right education, or live in certain parts of the country, it is not just unfair to individuals but fundamentally changes the societal impact of offering the tests. The necessary consequence of offering prenatal diagnosis and the option to choose only to some people, is that the birth of a child with a genetic defect or disease will gradually change from being something that can happen to anyone to something that only happens to ‘some people’. Don’t we already see this happening to some extent with Down syndrome? People are right to think hard about the potential consequences of prenatal diagnosis, but restricting prenatal testing so that access is unequal doesn’t limit the harm, it multiplies the harm.

 

Point three: we need to make the case that genetic testing is a part of good prenatal care and that every pregnant woman has a right to it, if she chooses.

 

There are other issues to consider but these three jump out at me as points of concern for genetic counseling practice as we move forward with a new administration. What can we do?  Hope for the best. Make our own spaces – schools, clinics, workplaces – into welcoming and inclusive environments for those who don’t feel safe in the current climate. Be vigilant, and bring changes that affect patient care to public attention. Talk to other counselors. Talk to me; I would love to hear your take and your stories.

 

 

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What Is Genetic Counseling?

Until recently, I have felt pretty comfortable calling myself a genetic counselor. I have a graduate degree in genetic counseling, passed a long and difficult certification exam, and I am licensed by the great state of Washington to practice genetic counseling. It’s on my business card, the directory of my office building, and it is my official job title. I have been providing genetic counseling to patients for 33 years. I had not lost a wink of sleep worrying over what to call myself until about two years ago when I started to develop a nagging identity crisis when, on this very web site, my fellow DNA Ex’er Allie Janson Hazell suggested that maybe it is time to re-think if we should be calling ourselves genetic counselors. It was a minor itch at first. But now it’s grown into a persistent problem that I can’t stop trying to scratch, like the mysterious treatment-resistant, psychologically rooted foot disease that afflicted the John Turturro character in the recent HBO mini-series The Night Of.

But let me pose the question differently than Allie did. Why give up a good and beloved name? And I don’t even want to begin to think about the bureaucratic nightmare of rewriting state licensure laws. Instead, maybe, just maybe, it is time to debate whether we should redefine genetic counseling and the genetic counselor’s scope of practice. After all, genetic counseling is what genetic counselors do. If many of the daily activities of genetic counselors are not captured by the current definition of genetic counseling, then perhaps it is time to rethink it.

I acknowledge some personal resistance and intellectual conflict of interest – fellow DNA Ex’er Michelle Strecker and I were part of the National Society of Genetic Counseling Task Force that wrote the modern definition of genetic counseling in 2oo5 and published in 2006 (the first formal definition was published by the American Society of Human Genetics in 1975 ):

Genetic counseling is the process of helping people understand and adapt to the medical, psychological and familial implications of genetic contributions to disease. This process integrates the following:

• Interpretation of family and medical histories to assess the chance of disease occurrence or recurrence.

• Education about inheritance, testing, management, prevention, resources and research.

• Counseling to promote informed choices and adaptation to the risk or condition.

 

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I like that definition, with its integration of clinical, educational, and, most critically, psychological aspects of genetic counseling. I am not sure I want to see it relegated to a historical footnote. Paradoxically, it could be that I am subconsciously trying to unconvince myself about the need for a new definition as much I am trying to convince the blog’s readership that it is time to consider updating it.

But I have to admit that maybe the modern definition is not so modern anymore. Genetic testing has become, in some instances, downright cheap. Everybody and their cousins are offering genetic testing. You can even obtain genetic testing, for all intents and purposes, without the involvement of a physician, genetic counselor, or any other health care provider. Roughly one in five genetic counselors works in a laboratory setting. Genetic counselors work as test interpreters, policy advisors, genetic ancestry specialists, insurance advisers, laboratory managers, account managers, sales staff, mutation database curators, laboratory liaisons, report signers, educators, and researchers. There are probably genetic counselors who are performing activities that I can’t even think of or grasp. Although for now we are still largely anchored in the clinic, we are drifting on a professional tide away from it. The definition probably still reflects the activities of many genetic counselors, but it also may not capture what a lot of genetic counselors do in their practice.

Here is the scope of practice for genetic counselors from the website of the National Society of Genetic Counselors (a more detailed listing of genetic counseling competencies can be found at the Accreditation Council For Genetic Counseling):

Genetic Counselor Scope of Practice:

a) obtain and evaluate individual, family, and medical histories to determine genetic risk for genetic/medical conditions and diseases in a patient, his/her offspring, and other family members;

b) discuss the features, natural history, means of diagnosis, genetic and environmental factors, and management of risk for genetic/medical conditions and diseases;

c) identify and coordinate genetic laboratory tests and other diagnostic studies as appropriate for the genetic assessment;

d) integrate genetic laboratory test results and other diagnostic studies with personal and family medical history to assess and communicate risk factors for genetic/medical conditions and diseases;

e) explain the clinical implications of genetic laboratory tests and other diagnostic studies and their results;

f) evaluate the client’s or family’s responses to the condition or risk of recurrence and provide client-centered counseling and anticipatory guidance;

g) identify and utilize community resources that provide medical, educational, financial, and psychosocial support and advocacy; and

h) provide written documentation of medical, genetic, and counseling information for families and health care professionals.

Some of the core questions and issues are, as I see them:

  1. Do the definition of genetic counseling and the scope of practice accurately reflect what goes on in clinics and in other work settings?
  2. Should the definition be broadened such that the very act of genetic counseling incorporates some of the newer activities of genetic counselors? This would suggest that the definition of genetic counseling could include some practices that are not involved with direct patient interaction.
  3. Is the definition still adequate but the scope of practice needs to be reworked? Or is the scope of practice adequate but the definition needs some sprucing up?
  4. How do we not lose sight of the psychological component to genetic counseling?
  5. Distinguishing between genetic counselors (roughly equal to the scope of practice) and genetic counseling (roughly equal to the definition).
  6. Remembering that genetic counseling ≠ genetic testing.
  7. Any definition will have an implicit ethos that needs to be carefully considered. The current definition is clearly centered on the psychological and physical well-being of patients.

Perhaps it is time to create another task force to address these questions and issues. I second Allie Janson Hazell’s suggestion that any such group should be international in scope; North America does not have a monopoly on genetic counseling. Of course, that could lead to an ungodly large committee; Resta’s Rule Of Committees is that a committee’s effectiveness is inversely proportional to its size. Decades of experience have taught me that the maximal effective committee size is five (no, I did not arrive at that number by a rigorous scientific process; it’s just a natural fact revealed to me in a trance one day).

I suggest a tiered process. A small task force, ideally international, investigates these questions and issues, and if the definition and/or scope of practice are found wanting, then they draft a new definition and/or scope of practice. This would then be passed on to a larger committee consisting of several representatives of the major international genetic counseling organizations, who could then choose whether to pass it on to their larger membership for comment.

The task force should include a clinical person, a lab person, and two or three other genetic counselor specialties. Grizzled veterans like me should be kept off this committee. We may unknowingly be too caught up in the old vision, too self-convinced that dammit, we do genetic counseling the right way. This project needs counselors who are early mid-career to late mid-career, the group who are the natural successors to us silverbacks, ancient shamans, and village elder wise women.

The scope of practice does not have to be particularly terse. But the definition should not be too wordy; think of how convoluted and awkward the old ASHG genetic counseling definition was. The current definition is about the right length, and, practically speaking, the definition can stand on the first sentence alone without the bullet points below it. I think that it is a tough act to follow, but sometimes the show must go on.

Oh, and while they are at it, they really should consider changing the wording to the more grammatically correct genetics counselor and genetics counseling. And let me interject another curmudgeonly opinion. I think that there are valid points made by both sides of the “Are they patients or are they clients?” debate, and I personally go back and forth freely. But I pray to God that we never use the phrase “consumers of genomic medicine.” I don’t care what you tell me about the business side of genetics and medicine; we should never label people as primarily income generating entities.

What do the Good Readers of The DNA Exchange think about this? Complete the very unscientific poll below, and share your thoughts in the Comments section.

The NSGC Annual Education Conference – only 2 weeks away – will be an ideal venue to further this discussion. And speaking of the AEC, note the announcement just below the poll about an opportunity to meet some of your favorite DNA Exchange bloggers at the upcoming Annual Education Conference in Seattle.

 

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GCs Got Talent! A Genetic Counseling Talent Show/Benefit For The Genetic Support Foundation At The NSGC Annual Education Conference in Seattle Friday, September 30 at 8:00 PM

An Evening of Music, Comedy, Dance, Storytelling, Arts and Crafts As Performed By Our Very Own Genetic Counseling Colleagues

Meet Some of Your Favorite DNA Exchange Bloggers, Judges Laura Hercher & Michelle Strecker, And The Evening’s Emcee, Yours Truly, Kool Papa Bob!

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rap-boy

 Illustrations by genetic counselor Dena Goldberg – “Dena DNA

Do you have a good story to tell or a talent to put on display? We would love to hear from you. There are still a few slots available. Story tellers and performers should email talent@geneticsupportfoundation.org to learn more.

 

For more information about the event, and ticketing, visit https://www.geneticsupportfoundation.org/gcs-got-talent-the-comic

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Guest Post: Finding Margaret, Finding Myself – How My Search For My Grandmother Led To New Ways to Use My Genetic Counseling Skills

by Beth Balkite

Beth Balkite is a graduate of Sarah Lawrence College program in Human Genetics and has been a certified genetic counselor for over 30 years. Her career has been one of firsts: the first genetic counselor to work in a community hospital, one of the first to work in industry, the first executive director of American Board of Genetic Counseling, and the first Interim Director of a genetic counseling program. She is currently an emeritus member of the National Society of Genetic Counselors, and a part-time educator in genetics and genetic genealogy.

Two years ago I became one of 4 million people who have sent a saliva sample to a direct to consumer (DTC) genetic ancestry testing company. In fact, I tested at three: Ancestry, 23andMe, and Family Tree. My ethnicity results were similar from all three, but because the companies each use a unique Ilumina chip, the percentages of each ethnic group were slightly different. 23andMe was the most informative. I delved into genetic genealogy testing to help me learn more about my family after I drew my own three-generation pedigree one day and soon realized I could not get very far. My mother has some dementia and my father and his one sibling died years ago so I had no one to interview. I could draw some of the circles and squares for the maternal side of my family, but my father’s side was nearly blank. He was a very reserved person and only spoke sadly about his mother dying when he was young. I had always been told his ancestors were German and that my mother’s were Irish.

Imagine my surprise when my results indicated I was 47% British! Not only that, I also had many DNA “matches,” first through fourth cousins I never knew about. Over time I contacted some of them, and a first cousin once removed had information about my paternal grandmother Margaret. With her name, I eventually obtained her death certificate and learned she died of an infection in 1921, when my father was only 4 years old (I had been told she died in the flu epidemic of 1918). She was English/Scottish and came from a very large family. I have learned of enough relatives to enable me to draw a four-generation pedigree on both sides of the family.

Click to enlarge

Balkite Graphic 2

 

I have since had my mother’s and my brother’s DNA tested—with their consent, of course. Using third-party tools, such as GEDMatch and various chromosome browsers, I have found segments we share with each other as well as with some newly discovered relatives, giving me more information about my ethnicity and who my ancestors were. I can now trace some traits through the family. I have taken a course in Advanced Genetic Genealogy and learned how to use PowerPoint for phasing DNA segments (“Phasing” may be new to many genetic counselors but we veterans relied on it heavily in the good old days before the widespread availability of DNA tests).

The process has had a profound effect on me. We moved around a lot while I was growing up so we did not have large family dinners or family reunions. I actually felt a bit lost being in a new school every two years and not knowing more than my immediate family. Now I feel as though I have found my roots; my real roots, not information passed on that was inaccurate (Maybe Henry Louis Gates will call me for his PBS show, Finding Your Roots?). I never knew much about my ancestors and now I am planning a trip to Europe to visit the places I know they emigrated from. Also, as a result of my DNA testing I have located first cousins I lost track of as well as new cousins I never knew I had—Margaret had a lot of siblings. We are all sharing memories and enjoying connecting with one another. I have learned why my grandfather changed his surname from Wolf to Bowers, that I have a 5 times great grandfather who fought in the Revolutionary War, and another who fought in the Civil War before returning to his job as a silver engraver for Tiffany and Co. I knew none of this two years ago.

I am just one member of a very large segment of the public who is very interested in understanding their DNA and what it can tell them (as a small measure of the popularity of genealogy I am told that And Bob’s Your Uncle, Bob Resta’s post about pedigree nomenclature, has had more views than the next 10 most popular DNA Exchange postings combined!). Some are afraid of the government or insurance companies getting hold of their genetic information, but most are very curious as to what they can learn about themselves and their relatives. They are very good “Citizen Scientists” according to Blaine Bettinger, a well known genetic genealogist.

Many testers choose to upload their DNA results to Promethease, an internet health information site. Promethease uses SNPedia to predict risk and, in some cases, carrier status for genetic disorders. For example, I learned I am an alpha-1 antitrypsin mutation carrier and am at increased risk for macular degeneration, which my mother has—all for $5. Some of the Citizen Scientists have difficulty interpreting their results from the DTC companies or Promethease and turn to genetic counselors for help.

The popularity of genetic genealogy is a phenomenon genetic counselors can view as a threat or an opportunity. Personally, I believe it is an opportunity to work with a very large segment of the population in a very positive way. When Maureen Smith and I wrote the chapter on “Evolving Roles, Expanding Opportunities” for the textbook A Guide to Genetic Counseling, we did not include Genetic Genealogist as a potential role. But with the recent explosion of widely available ancestry testing and interpretive tools, genetic genealogy is another area where genetic counselors can apply their skills. I continue to learn more about genealogy and genetic health testing. Some days I use my genetics knowledge to provide simplified genomic counseling  such as answering questions for people about their ancestry and/or health reports. I also use virtual tools such as GoToMeeting and social media to educate people. Although it does not typically have the profound medical implications of clinical genetic testing, genetic ancestry testing can have significant emotional and psychological impact on users and their families. For example, I may use my counseling skills to help a client share unanticipated information such as mis-assigned paternity, the shattering of family myths, or surprising ethnic affiliations.

This winter a genealogist and I are co-teaching a course at Duke University Continuing Studies entitled “Applying DNA to Your Family Tree.” I am looking forward to working as an educator and teaching this aspect of genetics to those, like me, who are interested in learning more about themselves and their family. Hopefully it will help them and their family members better understand the relationship between genetics and health.

And to think that this all started because I wanted to learn about my grandmother Margaret.

Some  links  of interest:
2016 Best Genealogy Software Reviews: http://www.toptenreviews.com/software/home/best-genealogy-software/
PC Magaine – Best Genealogy Software and Services for 2016: http://www.pcmag.com/article2/0,2817,2403077,00.asp
Reunion software for MAC http://www.toptenreviews.com/software/home/best-mac-genealogy-software/reunion-review/
DNA, Ancestry Testing and You by Brianne E. Kirkpatrick: http://nsgc.org/p/bl/et/blogaid=405
Post to DNA Exchange by B.E.K.: https://thednaexchange.com/tag/genetic-genealogy/
WatershedDNA website: http://www.watersheddna.com/
The International Society of Genetic Genealogy website: http://www.isogg.org
The Legal Genealogist blog: legalgenealogist.com
DNA Xplained blog: http://dna-explained.com

 

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Miracles, Monsters, And Do-Re-Mi: A Variant Cultural History of The Word “Mutation”


None of us can cast stones for we are all fellow mutants together.

– Herman Muller (1950)

Until relatively recently, mutations were thought to be uncommon events that irregularly popped up around the genome, save for a few hotspots here and there. Unless exposed to a mutagen, DNA was conceptualized as a fairly stable molecule and the individual genome tolerated only a limited amount of variation. But large-scale DNA sequencing has demonstrated that gene mutations are pretty much the norm rather than the occasional exception. For example, a recent as yet unpublished study by Craig Ventner’s team of 10,545 deeply sequenced  human genomes found that each genome contributes on average 8,579 novel variants and uncovered more than 150 million variants in the coding and non-coding regions. If you run a complex genetic test and you don’t find a mutation of some sort, then there is probably something wrong with your sequencing technology. Of course, not all gene mutations are bad. Some are disease associated, some may confer biological advantage, some are neutral, and some are difficult to pin down. Differentiating among the good, the bad, and the neither-good-nor-bad has become a bête noire for anyone faced with interpreting the clinical significance of genetic test results for patients, especially when classifications differ among labs.

Although the word mutation carries some potently negative connotations, its definition implies objective scientific neutrality – “An alteration in the nucleotide sequence of DNA,” in its simplest form. But of necessity this is only a recent, post-Watson and Crick wording that itself has mutated over the centuries and that has often had some not-so-neutral musical, psychological, biological, pop culture, sociological, and religious ramifications. A hop, skip, and a jump through the history of the word reveals the richness and variety of its usage – as well as its darker sides.

According to the Oxford English Dictionary, one of the earliest recorded occurrences of the word goes back seven centuries to – who else? – Chaucer who used it in the sense of a change or alteration and whose Middle English rendered it as mutaycouns (“mutaycouns of fortune” from his translation of The Consolation of Philosophy by the Roman philosopher Boethius). Shakespeare used it similarly when, in King Lear, Edgar cries that the misfortunes of fate shorten our lives “World, World, O World! But that thy strange mutations make us hate thee, Life would not yield to age.”

Mutation was also used to describe the key Catholic belief in the transubstantiation of bread and wine into the body and blood of Jesus Christ during the sacrament of Communion. In the 1426 translation by John Lydgate of the French Cistercian monk Guilaume de Deguileville’s Pilgrimage of the Life of Man, a popular devotional book of the Middle Ages, we read about “That marvelous mutacion, Bred into flesshe, wyn into blood.”  This “marvelous mutacion” is a critical distinction between Protestant and Catholic theology, two religions that seemed to be at war with each other for most of the Middle Ages. Catholics believed that the Eucharist wafer dipped in wine transubstantiates into the actual body and blood of Christ whereas Protestants viewed it as a symbolic and ritual re-enactment of the Last Supper. Presaging future genetic connections between monsters and mutations, Martin Luther referred to transubstantiation as “a monstrous word for a monstrous idea.” During my Catholic school years, I remember joyously singing “Eat His Body, Drink His Blood, and we’ll sing a song of love. Allelu-Allelu-Alleluia!” Leonard Cohen does not have a thing over the Catholic hymnal.

Musically, mutation is the exchange of one syllable for another in an ascending note scale, as in solmization, i.e., associating a musical note with a human sound. Think do-re-mi-fa-so-la-ti-do. Mutation is also used in music to describe changes in singing voice that occur with age and gender, particularly the change that occur in boys’ voices as they transition to puberty, much to the chagrin of many choirmasters of Medieval Europe’s churches (a curiously coincidental link between religion and mutation). Choir boys were faced with a Sophie’s Choice of either genital mutilation or mutation.

Mutation also bridges musical and genetic definitions when DNA sequences are transformed into musical notes. For a couple of hundred bucks you can upload your 23andMe DNA sequence and have it translated into a piano solo, dance music, or a fully scored orchestral work. It’s a little bit funny, but the thing is what I really mean is that it gives new meaning to Elton John and Bernie Taupin’s 1970 hit single Your Song. As a leading candidate for the award of The World’s Worst Dancer, my daughters shudder to think what my DNA would sound like if it were translated into dance music and performed in public. No doubt it would contain many nonsense mutations although my daughters would hope it contains a very early premature stop codon. In a darkly comic coincidence that bridges modern music, Herman Muller’s above quote, and DNA, the musician Frank Zappa named his official fan club United Mutations, supposedly after reading his weird fan mail (think of how unusual the mail must have been if Zappa found it strange). And in another odd connection between mutation’s musical and biological connections, Zappa sounded like Darwin when he proclaimed “Without deviation from the norm, progress is not possible.”

The earliest reference I could find to the use of the word mutation in the context of evolution was in the 1869 publication Die Formenreihe des Ammonites subradiatus by Wilhelm Heinrich Waagen, a German paleontologist and geologist (no doubt somebody used the word before Waagen; there is always somebody else who was “really the first”). Based on his observations of fossil ammonites in the Punjabi Salt Range, Waagen proposed that evolution occurred slowly through minute mutations in a definite direction and that could be observed by careful examination of successive fossil strata, resulting in the eventual emergence of new species (though I think  he was thinking of mutations as anatomic rather than strictly genetic phenomena). Waagen was a devout Catholic who opposed Darwin’s evolutionary model and who tried to reconcile the fossil record with Genesis, suggesting that new species arose through new acts of divine creation

Mutation in its more modern sense arose with the re-discovery of Mendel’s work by de Vries, Correns, and Tschermak-Seysenegg and the flowering of modern genetics and evolutionary theory in 1900. de Vries in particular emphasized the importance of mutations to evolution in his magnum opus The Mutation Theory (1901-03). Gene mutations were now understood to be the engine that drove evolutionary change and chromosomes were thought to somehow carry genes. But the physical nature of mutations remained a mystery that was not resolved until the early 1950s when Alfred Hershey and Martha Chase identified DNA as the “hereditary material” and Watson and Crick famously resolved the structure and self-replicating mechanism of DNA.

Mutations could be adaptive or non-adaptive, though the presumption was that most mutations were evolutionary dead-ends and natural selection genetically purified the population (one can see the natural jump to eugenic ideologies). Creatures that were very different from their contemporaries presumably from underlying gene mutations were sometimes called, in the vocabulary of Richard Goldschmidt, “Hopeful Monsters,” evolutionary opportunities for saltatory speciation through chromosomal level mutations (Hopeful Monster and Hopeful Monsters are also the names of two different musical bands, as well as the title of 1990 novel by Nicholas Moseley). Others thought that hopeful monsters were only hopeful ideas and that speciation occurred through a more gradual dynamic balancing of winnowing and selection of small effect mutations.

Early 20th century eugenicists took the notion that mutations were largely negative and ran with it down some dark ethical alleyways. The “defective germ plasm” of immigrants from anywhere other than certain parts of northern and western Europe, people dwelling in the lower socio-economic rungs, the feeble-minded, and other undesirables made them genetic threats to the hereditarily healthy population. The solution to avoid becoming awash in defective germ plasm was to coercively or non-coercively discourage such genetic riff-raff from producing offspring. Eugenicists also encouraged genetically desirable people to have more offspring but such genetic hopefuls were not said to carry good mutations, just good genes.

The early 1930s saw the introduction of the far more neutral term allele, derived from allelomorph, which was itself introduced in 1902 by William Bateson, who also gave us the word “genetics.” Essentially alleles were versions of the same gene that differed on a DNA level. Although allele is in genetic publications, it has never really entered into the wider public vocabulary and discussion around genetic variation.

The geneticist Herman Muller had a career-long interest in genetic mutations, starting with his work with Drosophila in Thomas Hunt Morgan’s Fly Room at Columbia University and continuing with his Nobel-winning work on radiation induced mutations. His work, perhaps more than any other, was critical in the development of the idea that mutations were primarily harmful. In his influential 1950 American Journal of Human Genetics paper “Our Load of Mutations,” he viewed mutations as a “load” that the human species had to bear. However, he thought that most mutations were only slightly disadvantageous, and that each of us carries 8 slightly harmful mutations. Each mutation carried a selective disadvantage of 2.5%, and thus on average each person has a 20% chance of death or reproductive inefficiency as a result, under the assumption that humans were still living in the Neolithic. Muller worried that the comforts of the modern world allowed more maladaptive mutations to survive and increase, and that environmental exposure to ionizing radiation increased the frequency of  new mutations. This problem could be ameliorated by reducing the amount of man-made ionizing radiation and discouraging reproduction among those who carried the most mutations, “only” 3.5% of the population in his reckoning. Theodosius Dobzhansky served as a counter-point to Muller, arguing that variation was mostly adaptive and we should embrace the social and genetic diversity brought about by mutations (Muller’s paper and his disagreements with Dobzhansky are thoughtfully discussed in historian of biology Diane Paul’s 1987 paper “Our Load of Mutations” Revisited and is my primary source here).

Thus until about 60 years ago, with a few exceptions, mutations were largely viewed as having negative effects, while recognizing that some portion must be positive to allow adaptation and evolution to occur. Other than synonymous mutations in which the amino acid sequence is not altered, the notion that a mutation could have no phenotypic effect was not seriously discussed because mutations could only be inferred by their phenotypic effects. But in the 1960s, Motoo Kimura, among others, suggested that, based on studies of protein evolution, the rate of nucleotide substitutions was so high that it was difficult to believe they all had a positive or negative phenotypic effect. He felt that most mutations were neutral, that is, they have no measurable phenotypic effect and genetic variations among populations were largely the result of genetic drift, influenced by population size and dynamics. Mutations are like algae floating in the gene pool, pulled by the stochastic and unpredictable tides of populations

In Pop Culture, public fear of mutation arose in the context of the post World War II threat of nuclear war and the potential subsequent widespread exposure to ionizing radiation. Mutants in the public conception were typically monsters or super-humans with special powers that could be a blessing and/or a curse. Godzilla, The X-Men, the backwoods Southerners of  Deliverance, certain zombies (though apparently there are some finely nuanced arguments about the distinction between mutants and zombies), Spiderman, and the Hulk all owe their unique characteristics to mutations induced by radiation or inbreeding. For the most part, you don’t want to be these creatures. While it would be pretty cool to web-sling through the upper reaches of Manhattan’s skyscrapers, hulk-out to frighten off bad guys, or maybe even level a city or two, the message is almost always that being a mutant comes with the Faustian price of giving up the soul of your humanity. In conversation, to label someone a mutant is to suggest that they are very different, and usually in not such a good way. Even when used in a sort of positive context to describe super-athletes who seem to function on a different level than their competitors such as LeBron James, Diana Taurasi, Babe Didrikson Zaharias, Babe Ruth, Wayne Gretzky, Florence Joyner, Michael Phelps, or Diana Nyad, its use suggests that they are a different species from the rest of us, “freaks of nature” (ironically echoing the centuries old terminology “sports of nature” to describe biological specimens whose anatomy deviated significantly from the species type).

Not surprisingly, for many patients in genetics clinics, discovering that they carry a mutation, even in a recessive form, can be a narcissistic ego blow and affect desirability as a mate. If you carry a mutation you are implicitly a mutant. Connotations of the word mutation contribute to fears of having children with disabilities. Currently in medical genetics, and probably for the better, mutation is falling out of favor and there is a trend to replace it with a more neutral, or least less negative, terminology. Mutations are now described as variants that are categorized by qualifiers – benign polymorphism, uncertain significance, deleterious/pathogenic, etc. Although this nicely delineates the multiple effects and uncertainties of mutations, it doesn’t necessarily suggest that carrying a mutation is a good or normal state of affairs. And carrying a pathogenic variant, even a likely pathogenic variant, usually doesn’t make you feel too good about yourself when you wake up each morning and look at yourself in the mirror.

Mutations also cause much fretting and hand-wringing on the societal level. Witness the controversy around genetically modified organisms and worries that Frankenstein-like plants or animals will take over the environment like some real-life mutation, er, variant, of Day of The Triffids. Even CRISPR-Cas9 and other gene editing systems, which are intended to fix mutations, are criticized because of fears that they may unknowingly induce undesirable mutations in non-targeted parts of the genome.

At the end of the day, mutations are part of our biological identity. They are literally etched into our DNA, although we would be ignorant of the existence of most of them in the absence of DNA sequencing technology. None of us are Wild Types and all of us are Wild Types. We should embrace mutations, not reject them (well, at least most of them). Mutation is the norm for life, not the exception. Despite their typical neutrality, fear of mutations has been used to justify religious wars, castration of pre-pubescent boys, sterilization of the “unfit,” and to engender deep-rooted psychological fears in parents and in societies. Muller and Zappa were both right – we are all mutants and we should be united. But it turns out that being a mutant is usually not such a bad thing.

For an excellent short review of the concept of mutations in the history of biology, see Mutation: The History of An Idea From Darwin To Genomics by Elof Axel Carlson, Cold Spring Harbor Laboratory Press, 2011. Once again thanks to Emily Singh for help with graphics. 

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Ancestry and the Long Distance Call

These are the days of miracles and wonder

 

I read the science news in 2016 and hear lyrics from that Paul Simon song echoing in my head.

 

These are the days of miracles and wonder

And better variant calls

The way that CRISPR works on everything

The way we sequence it all

 

Perhaps I paraphrase. But these are heady times, when the boy seems poised to burst out of his bubble, and fantasies of a baboon heart turn into dreams of a human heart instead, grown in a lab or in a pig, and we will have no more of slaughtering primates thank you very much.

 

These are the days of promises and phase one trials,

and medicine is magical and magical is art

 

When we cure your disease, I will feed you pancakes with maple syrup and put frosting on your birthday cake, I tell my beloved friend with type I diabetes. We will float Islets of Langerhans in a pouch beneath your skin. We will re-engineer your pancreatic stem cells to be invisible to your immune system.

 

Promises of miracles come with questions. Can we? Should we? How will we pay for it all?

 

We. We use the word freely, but what does it mean? This is a genetics question too, one that we (the purveyors and patrons of genetic technology, the readers of this blog) don’t ask ourselves often enough. Who will benefit from the miracles that are now only twinkles in the eye of brilliant minds?

 

Who is included when we talk about ‘we’? A family, a tribe, a nation, a species? It is one of the ironies of the genomic age that the technological revolution that makes it possible for us to think and act globally has also spawned a growing interest in atavistic concepts like bloodlines. Racism raises its ugly old head on new platforms like Twitter and Facebook. The through-the-roof popularity of ancestry testing both testifies to and nurtures an instinct to tribalism that is ancient beneath the glossy surface of its web-based, consumer-facing interface. A powerful thing, genealogy, beyond the fun and games, with the power to bring us together or tear us apart.

 

Research testifying to this was published earlier this year, in the form of an article called “Living in a Genetic World: How Learning About Interethnic Genetic Similarities and Differences Affects Peace and Conflict”. The authors conducted a series of studies observing how reading a single article about genetic relatedness or the lack thereof altered the response of a Jewish audience toward a hypothetical Arab population, and vice versa. Participants queried after being given a mock BBC article describing Jews and Arabs as genetic cousins expressed a less negative attitude toward individuals of the other ethnicity. Repeating their experiment with populations of Jews of different ages and from different parts of the United States, Sasha Kimel from Harvard and colleagues from the University of Michigan, Europe and Israel found that a suggestion of genetic kinship consistently increased support for peacemaking between Israel and the Palestinians.

 

Now don’t get me wrong, small studies and academic hypotheticals don’t represent a road map to peace in the Middle East. But the discussion points to something we as genetic counselors know from experience: genetic ideation is a powerful force in shaping notions of identity. It helps define ‘we’ for each of us.

 

This is something to think about every time we give out genetic information. For 23andMe and Ancestry.com, it could mean writing a report that puts as much emphasis on what unites us as on what divides us. By convention, we talk about first cousins sharing 12.5% of their DNA.   But we share more of our DNA than that with a banana. Yes, I know that what we mean is that 12.5% of our DNA and our cousin’s DNA is identical by descent. Testing companies give FAQ’s explaining the numerics of relatedness; perhaps the 99.9% we all share ought to merit an asterisk at the very least.

 

It is a strange moment in which we live, full of hope and promise and fear and sadness. A new era builds at our back, with unprecedented tools to diagnose, treat and even prevent disease, while the landscape in front of us is one of increasing income inequality and fitful, angry isolationism. The routine injustice of bigotry and unequal access are far greater threats to the genomic era than the sci-fi horrors of Drs. Frankenstein and Moreau. CRISPR can’t change your zip code.

 

There is no simple solution to this, but the battle begins with how we define ‘we’. Genetics needs to remind us of what we share as often as it tells us how we are different. Many of you are out there every day fighting battles you may not recognize as part of a larger war: battling insurance companies for access, battling to bring diversity to our biobanks and clinical trials, supporting a new vision of family, in which our 99.9% shared DNA is enough, and we are not defined by the fraction that is identical by descent. We are educators in a field that is an agent of change, and so it falls to us to work for an ever more expansive and inclusive definition of ‘we’. Without that, we risk that the amazing technology of the genomic age will be perverted into a tool for doubling down on the things that divide us.

 

These are the days of miracles and wonder

This is the long distance call

The way the camera follows us in slo-mo

The way we look to us all

The way we look to a distant constellation

That’s dying in a corner of the sky

These are the days of miracle and wonder

And don’t cry baby don’t cry

Don’t cry

 

 

follow me on twitter!

@laurahercher

 

 

 

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Who Decides?

The past decade has seen an evolution in the way that new genetic tests become incorporated into clinical practice. Historically, genetic tests such as amniocentesis, CVS, AFP screening, newborn screening, and ethnic-based carrier screening were introduced after undergoing government-funded studies conducted by academic and clinical institutions. This research was typically supplemented by exploration of the ethical and socio-economic issues generated by new technologies and engaging the principal players in the at-risk community in open discussion. This may have resulted in a slower clinical integration of novel technologies but the net result was better patient care because the technology’s strengths, limits, and ethical and socio-economic implications were more clearly defined before the testing was offered routinely. Not to say that this approach was perfect. Recall the problems that arose when sickle cell carrier screening was introduced only to become entangled in the thorn-bush of racial politics and racial history.

Commercial interests played less of a role in such decisions in part because the tests generated lower profits due to their labor-intensiveness (think about the time spent in counting chromosomes and hand cutting and pasting karyotypes or running Southern blots), had limited target populations due to the rarity of most genetic disorders, and could be costly. There just weren’t that many large-scale genetic testing labs out there.

Now, however, genetic testing is cheaper, more profitable, less labor-intensive, and has a wider proposed target population – every pregnant woman, many people with cancer or who are at hereditary risk (maybe only 10% of breast cancer patients are appropriate candidates for hereditary testing but most of those patients have a lot of relatives), every woman, and, as with the aim of some direct to consumer (DTC) tests, everyone. Genetic labs pop up left and right, merge, expand, are bought out, and otherwise engage in business. Twenty years ago, trying to find a lab to run a genetic test could involve hours of detective work and secret word of mouth sources. Now labs are knocking on our doors cajoling and pleading for our patients’ samples. While most labs are deeply concerned about patients and are well-intentioned, they are also equally concerned about profits. Money-making, after all, is why businesses exist so it is no surprise that labs have started to take a more active role in introducing new genetic tests. This is not a phenomenon peculiar to genetics. It has been going on in medical care for decades, and genetics is just starting to catch up. It is also reflective of the growing trend in the health care industry to refer to patients as consumers of medical care and to implement customer service based patient care models.

Several genetic tests come to mind here – expanded carrier screening, offering noninvasive prenatal testing (NIPT*) to low risk pregnant women, multigene cancer panels, and SNP-based DTC testing. These tests worked their way into patient care after aggressive sales tactics and questionable advertising claims helped amplify the demand. This was further driven by competition between clinics to offer the latest and greatest tests to their patients, the general eagerness of genetic counselors to seek genetic answers for their patients, and patient word-of-mouth networks. About the only counter-balance has been a reluctance on the part of health insurers to cover new and unproven testing. Most of my patients want that new genetic test but only if their insurance company covers it, although low-cost labs like Color Genomics are challenging this limitation.

To some degree, patients can benefit from these tests but not necessarily to the extent that one might think. 23andMe states that their product should not be used for clinical decision-making – at least for now – while at the same time offering “wellness reports” and “genetic snapshots of your health.” This sounds to me like clever ad copy to deflect regulatory concerns about health claims while at the same time suggesting that the product is an important aspect of everyone’s medical care. Supporters of expanded carrier screening acknowledge its limitations in terms of  studies on net health benefits and cost effectiveness but still offer the test routinely and subtly suggest that the test is standard when they claim that they work directly with a network of over 6,000 health care professionals. NIPT may soon become an appropriate test for all pregnant women, but this conclusion should be driven by independent studies conducted outside of the commercial sector. Multigene cancer panels have shown some benefits, but not nearly as much as many clinicians had hoped for.

I am grateful for the valuable contributions that labs have made to patient care. Quicker turn around times, incredible help with verifying insurance coverage, and highly knowledgeable genetic counseling staff who happily share time and considerable expertise in interpreting complicated results. 23andMe provides far better patient education materials than any single genetic counselor or clinical institution or professional organization could ever hope to create. And 23andMe was several steps ahead of everyone in facilitating patient connections to researchers and each other as well as when the company made raw data available to consumers. I never anticipated that patients would have wanted such level of detail. Along those lines, note the recent complaint filed wit the Office of Civil Rights against Myriad in which several patients assert that their HIPAA rights were violated because they claimed that Myriad would not share all of the genetic variants that were detected, including those that are considered benign or clinically insignificant. Clearly I am still time-stuck in the era when couples were ecstatic to receive a karyotype of their unborn baby and I can’t remember a single patient requesting records of all their amniotic fluid metaphase spreads and cell counts.

Of course, introducing new tests before they are ready for prime time is just part and parcel of living in a market driven society. The context is much larger than the genetics niche or even medical care in general. Labs and competitive clinics should not be faulted for engaging in behavior that is widely condoned elsewhere. Nor should all blame be placed squarely on the shoulders of labs. Everyone needs to be engaged in this process. It is not just the buck dancer’s choice, my friend. Labs can put the brakes on new tests a bit. Clinicians and labs need to form better relationships while tests are in development. Labs need to step back while independently funded research verifies claims of accuracy. Governments need to step up funding for such research. Clinics need to fend off marketing pressures to prematurely offer the newest tests to patients. Communities need to be involved in the process. We all need to work harder to dispel the myth that genetics is destiny and that DNA is the blueprint for our humanity. Labs need to be fully transparent with their data even if it means sacrificing some basic business principles of corporate secrecy.

The explosive growth of lab positions for  patient-focused genetic counselors – roughly 20% of genetic counselors are employed by labs, according to the 2016 Professional Status Survey of the National Society of Genetic Counselors – can help implement a wiser policy on test development and introduction into medical care. Of course, as I have mentioned previously (ad nauseam, according to some) genetic counselors will need better training to navigate the murky, complex waters of conflict of interest.

Labs, clinicians, and patients need to recognize that market forces don’t have to be the only engine that drives policies on test development and introduction into clinical practice. We are talking peoples’ lives here, not trying to outmaneuver Pepsico’s Cheetos in the market niche for snacks that you can’t seem to stop eating, even when your hands and mouth turn that peculiarly unnatural orange color (did you know that there are 21 different types of Cheetos on the market? Cheetos Sweetos, however, has been discontinued.). Innovation can be wonderful, exciting, and improve medical care. Let’s just do it wisely.

                                                                                                                                                                                                                                                                   

  • – actually it would be more accurate to say that the P in NIPT stands for placenta. It is not really cell free fetal DNA; it’s cell free placental DNA.

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