by | July 23, 2009 · 7:53 AM

When The Line Between Being A Friend and A Genetic Counselor Becomes Fuzzy

Set scene.

It’s 9 pm on a Friday night and I walk into a friend’s apartment all ready to catch up on meaningless gossip with friends.

“Kelly!  I have a genetics question for you.”

“What if I have a family history of *insert condition* what are the chances of me having that condition?”

“Is it okay to take this medicine during the first trimester of my pregnancy?”

End scene.

I imagine many of you have found yourselves in similar situations.  I constantly get questions from friends and family members regarding their chances for developing a genetic condition.  I also get many questions from friends who are pregnant.

My initial reaction is always one where I want to just sit them down and counsel them.  I want to give them all the information they’re looking for.  I want to help them.  I love when people I’m close with show an interest in my passion and I want to seize that opportunity.  It also means something to me that they trust me with some of their most personal question regarding their health.

I have a personal rule that I stop and think before I answer these types of questions.  I remind myself to take off my genetic counselor hat and to be a friend/family member first.  I do sometimes give very general and basic textbook scientific information.  I do not counsel a friend’s risk of developing a condition nor do I give them any medical advice.  I have never and will not counsel friends/family members outside of a clinic setting.  This not only protects me, it also protects them.  I cannot provide quality services outside of a clinic setting if I don’t have access to accurate medical information, can’t order tests, and I can’t protect their privacy.

What do you feel your responsibilities are as a genetic counselor outside of “work?”  Do you always wear your genetic counselor hat?  What are our responsibilities when we know we could provide a lot of helpful information?  Do we hold all that information from them and encourage our loved ones to make an appointment with a genetic counselor/geneticist/doctor?  What if they never make that appointment?

What are some experiences you have had?  Where and how do you draw the line between being a counselor and a friend/family member?

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by | July 20, 2009 · 7:04 AM

Perils of Language: Why Sonia Sotomayor Won’t Call Herself “Pro-Choice”

As Sonia Sotomayor faces the Senate Judiciary Committee this week, two things are certain:Sonia Sotomayor

1. Much of the questioning will be about abortion.
2. You will almost never hear the word abortion.

When we talk about this subject – in speeches, in newspapers, and on our NSGC list serve – the dialogue is shaped by the words that we use, and the words that we avoid.  In the Senate, the discussion will use code words like “judicial philosophy” and “stare decisis.”

The rest of us will make do with more accessible terms like “pro-life” and “pro-choice.”  Rereading the contributions of genetic counselors following the heinous murder of Dr. Tiller, it is striking how much the use of that familiar shorthand directs the conversation into well-worn ruts of left and right, pro and con, when the truth is I suspect that the majority of counselors – like the majority of Americans – have more in common on this difficult subject than readily meets the eye.

Take a look at the most recent Gallup Poll results of the subject of abortion. The headline in May was “more Americans than ever before identify themselves as “pro-life.”  Had this poll been taken after Dr. Tiller’s murder, the results might have been different – and the news organizations would have proclaimed this a change of heart.  But really, how many hearts were changed?  It only illustrates the ambivalence with which Americans attempt to shoehorn their complex and emotional attitudes toward abortion into inflexible categories drawn up by impassioned ideologues on both sides.

In stark terms, “pro-life” suggests that a fetus is no different than a baby.  If this is truly what you believe, how can any abortion be justified?  Many participants in our discussion complained about the intransigence of pro-lifers who won’t make exceptions for rape, incest and so on – but how many of us would identify circumstances under which it is acceptable to end the life of a baby?  Just over twenty percent of the population is opposed to all abortion, a position which may be intransigent, but is nonetheless morally consistent.

But look at the Gallup Poll results in greater detail and you will see that the vast majority of Americans favor abortion in certain circumstances.  What does this suggest?  Despite the fact that it is hard to talk about and it makes people uncomfortable, most of us believe that becoming a human being is a process – a continuum. We all seek to identify a point along that continuum when “human-ness” becomes so compelling that our moral obligations are clear.  But whether or not you pick conception, or quickening, or viability or birth, the truth is that there are few of us who would not admit that if the building were on fire and we could only save one soul, we would go for the two-week old baby over the frozen embryo every time.

A majority of genetic counselors identify themselves as pro-choice (although not all, as we all learned in that listserve conversation!).  I am guessing that despite our political and professional stake in that identification, most of us have our own sliding scale, and we may all find ourselves a bit queasy about an abortion that occurs late or for a reason we find “inadequate.”  I believe that what can get lost in the language of political engagement is that we are largely in agreement that abortion is an ugly necessity until the moment when it becomes entirely untenable.  When is that moment?  Don’t we all struggle with that?  Can’t we all sympathize with the desire for a clear and convincing answer?  Don’t we know it will never come?

Good luck, Sonia!

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by | July 13, 2009 · 7:00 AM

Just What Are We Trying To Do Here? The Goals of Genetic Counseling

In a previous post, I discussed my disappointment with the state of genetic counseling research. Barb Biesecker rightly pointed out that part of the problem lies in a lack of consensus and clarity about the goals of genetic counseling.

 

So let’s consider some goals of genetic counseling. I make a distinction between Ultimate Goals (i.e., what we ultimately hope genetic counseling will achieve) and Short Term and Intermediate Goals (i.e., key steps towards achieving Ultimate Goals). In my view, the Ultimate Goals of Genetic Counseling are:

1) To reduce the medical, emotional, social, and psychological suffering that results from the genetic contribution to disease.

2) To ensure the cost-effective and equitable delivery of competent genetic counseling services to all people in a manner that respects their dignity, individuality, and values.

Genetic counselors may utilize many different techniques and ethical frameworks – which will vary with the needs and unique situation of each patient as well as the skills and training of the health care provider- to achieve these ends.

These goals offer a framework for evaluating process and outcome studies of genetic counseling. In a very basic example, a method for increasing awareness of preconception folic acid supplementation might produce a better informed patient (a short term goal) which might help achieve the intermediate goal of better adherence to dietary supplementation which would then lead to the ultimate goal of a reduced incidence of anencephaly. An intervention that simply increases education but does not result in greater adherence or a better health outcome is only a very limited success. Another example of how these goals might be used to assess genetic counseling effectiveness could be a particular patient-centered emotionally sensitive genetic counseling technique that resulted in better psychological adaptation to a child with a genetic condition, which in turn resulted in less emotional and psychological familial turmoil and perhaps better health for the child because the well-adapted family is more likely to utilize health care resources.

Although I am reluctant to bring up eugenics because it is an emotionally-charged word that generates argument rather than discussion, as genetic counselors we cannot ignore this elephant in our offices. But if we do not raise it in the context of goals, our critics will. Indeed, one could argue that eugenics would also embrace these same goals. The difference, in my view, lies in means, emphasis, and intent. Eugenics, broadly speaking, is looking to improve the “health” of the gene pool and to reduce the number of individuals with genetic diseases, usually through social or institutional influences on reproduction. Genetic counseling, on the other hand, should strive to reduce the effects of the disease, not the number of people with a particular allele or condition.

But let us not get mired down in endless discussion of the E word. Instead, ponder, explore, question, and critique my proposed goals. Tell me what you think.

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by | July 2, 2009 · 7:34 AM

Guest Post: Gene Patents- Why should genetic counselors care?

By Ellen T. Matloff

Ellen T. Matloff, M.S. received a Bachelor of Science degree cum laude from Union College, and a Master’s in Genetic Counseling from Northwestern University. Ms. Matloff currently serves as the Director of Cancer Genetic Counseling at Yale Cancer Center in New Haven, Connecticut and previously worked at SUNY Health Sciences Center in Syracuse, NY. She is board certified by the American Board of Genetic Counseling and is a member of the National Society of Genetic Counselors, the American Society of Human Genetics and the American Society of Clinical Oncology.

Should we, as genetic counselors, care about gene patents?

We have plenty of other things to worry about: patient care, publication pressures, administrative responsibilities, growing caseloads, shrinking health care budgets (I could go on, but why raise our collective blood pressure?) — so why, oh why, would we add gene patents to this list?

Because gene patents have a major impact on many things that affect our practice. This includes, but is not limited to:

  • Cost of genetic testing, which influences: Patient access and insurability
  • Market competition, or lack thereof, which affects: Cost (see above), our ability as practitioners (or as a Society) to drive change within commercial genetic laboratories regarding issues such as price setting, marketing, advertising, turnaround time, reporting mechanisms, etc.
  • Clinical research, clinical research, clinical research. It is pretty hard to enroll patients in a study with an extra $3000 price tag per subject. Even a small study of 100 patients would cost more than $300,000 in genetic testing costs alone if patients were to receive their genetic testing results. And as those of us who have written grants know all too well, 100 subjects is a small ‘n’ and $300k is a huge chunk of most available grants.

In short, a strictly enforced patent creates a monopoly. Our patients need a test, we have to order it from one company, and they hold all of the cards. Lump it or leave it.

In the case of BRCA1 and BRCA2 testing, the cost of testing was $1600 in private laboratories in 1997. Twelve years later with the advent of more efficient and less expensive technology, the cost of the testing has not dropped, but soared: $3120 for full sequencing + an additional $650 for BART analysis = >$3770 per patient. Cha ching!

Perhaps in response to rising costs and direct-to-consumer advertising, many insurance companies have tightened their belts and their inclusion criteria for testing. HealthNet tried to drop coverage for genetic testing altogether two years ago, before an angry mob of rioters (also called genetic counselors) bled the story to the press. Medicare will now only pay for testing in a person who already has cancer. Kind of obliterates the whole preventive healthcare angle, doesn’t it?

For all of the above reasons, genetic counselors should care about gene patenting. This is important, its effects are far-reaching, and this is precedent-setting. Educate yourself and educate others.

———-

Here is a great clip about Myriad’s BRCA patent from the documentary film In the Family.

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by | June 26, 2009 · 7:09 AM

Guest Post: The “Wholistic” Genetic Counselor of Tomorrow

By Jordanna Joaquina

Jordanna is Director of Genetics and Co-Founder of AccessDNA.com, the first comprehensive online resource for information about hundreds of genetic conditions, topics, tests and Direct-to-Consumer providers. She is a board-certified genetic counselor with a clinical background in multiple disciplines of genetics. Read her complete bio here.

At the Consumer Genetics Conference last week in Boston, MA, most of the genetic “thought leaders” agreed that the technology was advancing quicker than the science. However, we all know that the personalizedmedicinescience will eventually catch up and sooner than we think, we will have made incredible strides. Not only will we identify and validate the genetic variables of disease, but also how they interact with each other, and with non-genetic factors, to affect disease risk and treatment.

And then what? What happens when personalized medicine is not just a crazy, pie-in-the-sky pipedream made up by forward-thinking, eccentric scientists, but a reality, and the new, “right way” to approach and practice medicine?

In this brave new world of personalized medicine, I imagine that every person will have their own personal genetic counselor. Along with primary care physicians or specialists, this new class of genetic counselors will help assess, interpret and guide patients through their risk factors, both genetic and non-genetic.

But if personalized medicine is realized tomorrow, little of us would be prepared to take on this important role – the “wholistic,” as I call it, genetic counselor who specializes in complex disease. Most of us have never even seen whole genome scanning nor whole genome sequencing results, nevermind being asked or expected to interpret them.

So, as genetic counselors, what can/should we do? How do we position ourselves as vital members of the personalized medicine team? How do we better educate and train ourselves and future genetic counselors in the genetics of complex disease as well as emerging genetic technologies? How do we participate in whole genome research, thought groups, and policy-making bodies? How do we continue to advocate for the proper use of genetic information and promote access to genetic services?

How do we begin to see our field and ourselves as one of the most important elements of health care in the next century?

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by | June 23, 2009 · 7:04 AM

When to take the debate public

I am an advocate for public thinking. In this era of social media, collaboration and transparency, there seems to be little benefit in keeping ideas to yourself and engaging only with those with similar backgrounds and viewpoints. By opening the conversation up to a larger audience, you can challenge yourself to consider others’ opinions and create a more dynamic and evolving dialogue.

I’ve always found the genetic counseling list serv an interesting phenomenon. From a clinical perspective it is a great tool to disseminate and receive info. But as a tool to discuss professional issues, media articles, political events, etc. I’ve always found it somewhat inadequate. Interesting debates and insights get lost in inboxes and archived folders. A blog, in my opinion, is a much more appropriate and user-friendly way to discuss and document these issues.

Then, about two weeks after the launch of DNA Exchange, Dr. Tiller was murdered. With indisputable relevancy for and impact on the genetic counseling community, it seemed obvious that this event should be addressed here. We asked Betsy Gettig to put some of her thoughts on paper, and I drafted a post.  But as I watched the discussion unfold on the list serv, with all of the uncensored expressions of grief, anger, confusion and hope, I reconsidered the utility of taking the discussion public at that particular point in time. With such an emotion laden and polarizing topic such as late-term abortion, adding a public element to an already difficult disucssion seemed excessive. As simple as it sounds, the experience taught me about the value of our profession’s private discussion list- namely the ability to discuss issues directly with other GCs, and only other GCs.

As some time has passed and I have had more time to digest my thoughts and feelings about Dr. Tiller’s death, I feel more comfortable discussing it online. I still may publish the drafted Dr. Tiller post at some point, and I know others are wanting to write on the topic as well. But for the time being, I am hoping to hear what you think about the benefits of private vs. public discussion of professional issues. What do you believe to be the strengths and drawbacks of this type of forum? What do you hope to see discussed here?

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by | June 16, 2009 · 6:55 AM

The Problem With Genetic Counseling Research

Researchers are finally starting to pluck the ripe fruit of  genetic counseling. The last decade has witnessed  a flood of articles about the emotional, psychological, and educational aspects of genetic counseling such that I can no longer keep my head above water. Given my long standing passion for research, I should be happy about this state of affairs.  So why do I often find myself let down after reading publications about genetic counseling?

To begin with, the conclusion of most articles can be summarized this way: “Many participants were unable to accurately recall information, some were anxious, and there were varying degrees of depression. There was little evidence of harm caused by genetic counseling and some small evidence of benefit. Most of the participants liked the genetic counselor.” This is basic, intuitive insight obvious to most genetic counseling students after their first couple of clinical rotations in graduate school. The research usually offer little in the way of new clinical insight that can be incorporated into counseling practice beyond the broadest generalities.

Of course recall is poor and anxiety is up; patients are dealing with complex medical information about emotionally sensitive topics like mortality, morbidity, and their reproductive lives. Yet despite these measures of our inadequacy,  in my experience, most patients -with a minority of notable exceptions that each of us can cite from our experiences -seem to make good decisions that are medically sound and consistent with their beliefs and values.

These studies also suggest that genetic counseling is a failure because of poor recall and heightened anxiety, implying that if patients only were clear-headed and  well informed, they would make logical anxiety-free decisions. But the reality is that – except for the small minority of patients with a disproportionate number of Vulcan genes – people are not logic-driven automatons, and anxiety and sadness are natural consequences of discussing death, serious illness, and risks to loved ones. Welcome to life. It also implies that the priesthood of genetic professionals possess The Great Clinical Truth and The Right Numbers when in fact the information and statistics we selectively present to patients are somewhat arbitrary and reflect our own training, biases, and institutional traditions.

Clinicians want their patients to think and act like , well, clinicians. In fact it should be the other way around – researchers and clinicians should be trying to think and act like patients. How is it that patients manage to make good decisions? When is a patient decision good, and when is it bad? Is it because of our best efforts, or in spite of them? How are we helping and hurting them?  What is happening in genetic counseling sessions that is or is not influencing health behaviors?  Can we show that genetic counseling has improved the health of our patients? Are – gasp! – other health professionals or even educational software better at it than we are? Can we use genetic counseling research to provide broader insight into the human psyche and behavior?

What types of genetic counseling research would you want to read or conduct, if you had the time, resources, and money? Which authors should we be paying more attention to? What are the great unexplored areas of genetic counseling? Take a moment to speak your mind and spark our imaginations.

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by | June 9, 2009 · 6:32 AM

“So, what do you do?”

I have heard some genetic counselors say they have ‘given up’ on telling those they meet at social events that they are genetic counselors in the interest of avoiding long, tedious, and potentially polarizing Q + A sessions with their fellow conversationalist. One GC told me she simply says she is a nurse.

Not me.

Although I mentally brace myself for the potential complicated discussion, I am always more interested in hearing what the other’s questions and reactions will be —

“So, you make blue eyed babies?”

“You tell people to get their breasts removed!?!”

“My friend was told her baby had Down Syndrome and he is now in a gifted child program.”

As I once read, “All patients have genes!” Since we are all potential patients, bringing up the topic of genetic counseling with acquaintances, family, or even fellow subway riders can really keep you on your toes.

At my last birthday party in a lower east side (NYC) location, I was told by a stranger who knew my profession:

“My cousin has ectodermal dysplasia”

Heavy stuff. Especially at 2am with Biggy playing in the background.

It is not unusual for others to inquire about one’s profession. But, the difference is that genetic counseling conjures up difficult topics for people – underlying most of the questions are ethical and moral considerations related to the definition of what it means to be human.

Are those typical party topics? No, but it does not mean they should be avoided.

In fact, they should really be encouraged.

So, how do we GCs respond? This conjures up 2 main questions for me:

1. Do we wear our professional genetic counselor hat at all times with a non-directive counselor role, limiting the exposure of possible biases and preferences? Or, do we share some of our opinions based in our experiences and knowledge? Perhaps these are not mutually exclusive, but striking the balance might very well be an art.

Over time and with exposure, every genetic counselor develops strong opinions, cases for which she/he has strong feelings. See below –

The cancer patient who has >66% chance for a BRCA mutation who declines both treatment and genetic testing.

The patient who continues a pregnancy affected with Trisomy 18.

The patient who terminates a pregnancy affected with Trisomy 18.

2. What is genetic counseling anyways?! I am sure we all have our media clip definition to share with our inquisitive social audiences, but sometimes I find myself wanting to gear my answer towards a particular person’s age, gender, background, etc. This inevitably leads to complicated discussions. There is certainly a spectrum of definitions regarding what genetic counseling is from the more thorough to the most simple (first hit in google). This is part of what this blog is about.

Genetics is a field plagued (and fortunate) to have no clear answers due to the mix of science, culture, religion, ethics, disease, stigma, psychology, family dynamics and relationships, guilt…

How to encapsulate all that in cocktail conversation without being a party stopper while still being true to my emotions and profession sometimes eludes me…

I am cognizant that I sure don’t know what an ‘associate assistant of regional internal marketing and financial affairs’ [insert any business position here] does. Although I doubt such a professional feels as much angst and pressure to perform when asked,”So, what do you do?

____________________________________________________________________________________________
Please share your thoughts regarding why engaging in discussion regarding our profession can be challenging. I also encourage everyone to share their humorous and/difficult social genetics stories (with respect for privacy of course).

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by | June 3, 2009 · 7:11 AM

Open call for Guest Bloggers

Thank you to everyone who has provided feedback over the past week. The response to DNA Exchange has been great so far, and it is encouraging to know that the GC community is excited about participating in this venue. Please continue to provide your comments, both positive and constructive; we appreciate hearing your voice.

 

A chance to discuss your thoughts publicly

We have had several people inquiring about participating in this initiative. In the interest of diversity and openness, we’ve developed a “guest blogger” policy. For obvious reasons, this open call is limited to those intending to discuss genetics or genetic counseling related issues.

How it works:

  1. If you’re interested in contributing a post, leave a comment here or send me a note at alliejanson[at]gmail.com with the topic you’re hoping to discuss
  2. Once you’ve written your post, the core group here will review it (to ensure there is no breach in patient confidentiality, to maintain the integrity of the site etc)
  3. Your content will be published with a short bio under a “Guest Blogger” title

We hope this process will encourage those who:

  • are interested in blogging, but aren’t ready to make a permanent commitment to it
  • are intimidated by some of the technical aspects of contributing to a blog. There is no technical knowledge required

We would also love to include posts from some non-GCs, including physicians, researchers, health advocates, legal experts, patients. Or anyone with an opinion about genetics, really.

Look forward to hearing from you soon.

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by | June 1, 2009 · 6:55 AM

About that Paternity Test… (Part 2)

(Find Part 1 here)

Okay, so Ms. Washington’s twins have two daddies. It’s just tabloid-fodder, right?. But reading it (hey, it’s my job!) I saw a kind of grandeur in this tale: a window into our evolutionary past. After all, routine gestation of a single child is a late development; most mammals carry littermates, often with different baby-daddies. These offspring compete for scarce maternal resources during and after the pregnancy — a competition that may explain the origin of maternal and paternal imprinting of chromosomes.

Here’s the thing: in evolutionary terms, the best interests of the mother and the best interests of the father are not always aligned. During a pregnancy andpig litter over her lifetime, a mother aims to produce as many healthy offspring as possible, which means protecting her own health and distributing her resources evenly, to maximize the chances of multiple babies in multiple litters. What with monogamy being a new idea – maybe that’s why we’re not better at it! — fathers back in the day were relatively unconcerned about the long-term health of the mother. Their mandate was to promote the success of their own offspring, even if it came at the expense of the gestating, caretaking parent (why do you think they call it MAN-date, anyway?). Competition would be particularly intense among littermates – if one father could find a way to get his offspring a disproportionate amount of maternal resources, his genes would thrive at the expense of others. In evolutionary terms, a good day at the office.

Conflict Theory, a school of evolutionary thought espoused by David Haig among others, looks at the consequences of these dueling agendas. Genetic changes that increase or speed-up growth would be favored – when they came from the father. Genetic changes that restrict or delay growth would be favored – when they came from the mother. Evolution would become a see-saw affair.

Let’s take the example of IGF-1, which promotes growth in multiple tissues in utero. Dad wants to make sure his kids are not the runts of the litter; mom wants to look a bit less like a beached whale. Mutations over time alternately increase and decrease the rate of production of IGF-1. Then one day a mutation occurs affecting methylation patterns that shuts down the maternally-inherited allele entirely – imprinting. In the war between the sexes, it is the evolutionary equivalent of the discovery of gunpowder.

Davor Solter first provided evidence of something like imprinting when he discovered in 1984 that proper mouse development required one male and one female set of chromosomes. Use all paternal genes and you get an underdeveloped fetus and too much placental tissue – like a molar pregnancy, which results from an empty egg and two sperm. Molar pregnancies are dangerous because of their unrestricted, highly invasive growth – just what you might have predicted from conflict theory. Maternal-only fetuses look more like mice but are small, and lack supportive tissue.

thinkingThe same logic can be used to predict which parent’s genes are over- or under-expressed in syndromes involving imprinted alleles. Beckwith-Wiedemann, an overgrowth disorder, can be caused by a double dose of paternal genes. The diminutive Russel-Silver baby? – a double dose from mom. Recently, a novel variant was found that is associated with the development of type II diabetes, but only when the allele is inherited from…drumroll please….dad.

So if you think the superfecund Ms. Washington is a sign of the times, think again. Men may not have realized until now that such a thing was possible, but their genes have known it forever. And if you think your genes are making you fat – kids, I’m begging you – blame your Dad.

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