Considering The Future of Genetic Counseling, Act II

When it comes to the future, there are three kinds of people: those who let it happen, those who make it happen, and those who wonder what happened.
John M. Richardson, Jr.

Those who predict the future are doomed to be wrong; just ask anyone at the race track or on Wall Street. But fear of failure should not hold us back; we have much to learn from error. So, to continue with the theme of the future of genetic counseling (see my previous posting), I will venture a few more guesses about the issues we should be considering when planning for tomorrow.

1. ) Safe and Legal Abortion Is Not Guaranteed For The Future : Abortion and abortion providers are under legal, social, and physical attack. It is not out of the question that Roe v. Wade may one day be overturned. Although it makes us uncomfortable to hear it, prenatal diagnosis is largely predicated on the availability of abortion.  It does not make economic sense to offer aneuploidy screening primarily to prepare parents for the birth of a

child with disabilities. If abortion becomes unavailable, insurers may be less likely to cover prenatal diagnosis, which could result in a dramatic drop in prenatal diagnosis job opportunities. And economic issues aside, is it morally justifiable to undertake the small risk of losing the pregnancy from amniocentesis or CVS simply because of parental anxiety or the desire for emotional preparation? You say that prenatal diagnosis can be important to long term developmental/medical outcome and familial adaptation. I say, aside from rare exceptions, the data is just not there to support your contention (and remember that the plural of “anecdote” is not “data”). So go out and do the studies and prove me wrong.

2) We Can’t Afford to Ignore Cost Effectiveness: Genetic counseling will likely come under increasing economic scrutiny. While I want to believe that our value to health care goes beyond dollar-savings, we nonetheless have to fiscally justify our employment and work loads. And, at times, we may be facing contradictory economic pressures. We will want to show that we lower healthcare costs by reducing the number of unnecessary genetic tests, ensuring appropriate medical screening based on genetic assessment, or whatever other means to demonstrate that we help produce a healthier population in a cost-effective manner.

On the other hand, we will be receiving subtle and not so subtle pressures from our employers to increase the number of revenue-raising activities. Back in the early 2000s, many centers, including my own, experienced a sharp drop in the number of patients who underwent amniocentesis, I suspect the result of  a social trend in changes in attitudes toward abortion and disability. At one point, my boss said only half-kiddingly “Bob, you are counseling yourself right out of a job.” Genetic counselors need to take the lead in conducting studies that show our cost-effectiveness while simultaneously demonstrating that we do not hurt our institutions’ bottom lines.

3) The Human Genome Project May Not Deliver On Its Promises: Genomic medicine is the medical technology du jour. All sorts of claims have been made about how genetics will revolutionize health care and cure everything from diabetes to the heartbreak of psoriasis. We have promised the moon. But what if the “genetic revolution” never comes? Or what if genomic medicine simply falls by the wayside as some new medical technology becomes sexier and more promising than genetics? Will funding for genetic research and clinical positions dry up? We need to stay alert to changes in other areas of medical care and adapt genetics to the changing practice of medicine.

4) The United States Will Not Be The Center Of The Genetics Universe: Until relatively recently, genetic counseling and genetic counselors have been concentrated in the US.  Although I haven’t tabulated the numbers, I am pretty sure there are more genetic counselors in the US than in the rest of the world combined. While many valuable contributions have come from Canada, the UK, both sides of the Tasman Sea, the Netherlands and other countries, the US has been the leader in the field (I will accept any criticisms of national chauvinism leveled by my international colleagues). But over the last 10-15 years, genetic counseling has spread to many other countries. New genetic counseling models will emerge as genetic counselors work in different cultural and geographic settings, especially  in non-English speaking countries. More international meetings, communication, and cooperative transnational research will be critical to the future of genetic counseling. The US model is one way of providing genetic counseling; it is not THE way, or necessarily the best way.

5) Office Visits and Flipbooks Are Soooo 20th Century: As Allie Janson Hazell and others keep reminding me, the Internet and e-technologies offer opportunities to reach more patients in a variety of ways. And as Vicki Venne recently pointed out, Millenial Generation students and patients are not going to stand for old fogey communication and teaching techniques. Some of us are just beginning to utilize the telephone to communicate test results.

I mean, come on, Sugar, it’s time to take a walk on the Wild Side.

We must open our minds and embrace, adapt to, and integrate new communication technologies to better serve our patients. Brick-and-mortar counseling has a critical place, but it may not always be the best way to ply our trade. And on-line genetic testing is not necessarily the spawn of Satan. We can’t – and maybe shouldn’t – control access to all genetic testing, but we can work to make sure genetic testing is used effectively and appropriately by patients and health care providers.

I hope I have provoked some of you into disagreement, thought, and action. Where am I off the mark? Which of my predictions are bound to be wrong? What are your predictions? How can we best prepare ourselves for the future?

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Filed under Robert Resta

Genetic Counselling Awareness Week hits Canada!

Although I know much of our readership is US-based, I thought you would all be interested in an initiative of the Canadian Association of Genetic Counsellors (CAGC) that is taking place this week.

To commemorate the 20th Anniversary of the CAGC, we’ve designated November 21-27 Genetic Counselling Awareness Week in Canada. As a Co-chair of this committee, it has been interesting and inspiring to see how this has developed into over the course of this year.

Rather than creating a structured event for GCs to carry out across the country, we put the control in GCs hands and challenged genetic counsellors nationwide to plan an initiative or event that would help to increase professional awareness in their own institution or community. The thinking behind this approach is that each region has it’s own unique strengths and challenges, and by allowing GCs to customize their message to their audience, we hope that we will have the most success in getting the word out.

We’ve created a website where we listed the events that will take place across the country this week. As I have been collecting this info from the various sites, it has been really fun to see what GCs have decided to do. Interestingly, several centres will be hosting film screenings, either in their own institution or at a community cinema. For example:

  • In Edmonton, Alberta there will be a screening of the documentary, In the Family, at a local theatre. This documentary follows a woman through her decision-making process regarding prophylactic surgery, after learning that she is a BRCA mutation carrier. Following the film, a genetic counsellor will lead a discussion regarding current practices in genetic counselling and genetic testing.
  • Genetic counsellors in Winnipeg, Manitoba have organized a screening of the documentary “Twisted” and a panel discussion in collaboration with the Dystonia Medical Research Foundation Canada. The documentary, by Laurel Chiten, weaves the stories of three dystonia sufferers as they seek treatment.
  • In Ottawa, Ontario, genetic counsellors are working in collaboration with local art company DNA11, have organized a screening of GATTACA. This late 90’s film explores the potential ethical issues that arise in a futuristic gene-centric society.

In Toronto we will be hosting a free community event at a local pub, where we will have a panel discussion and Q&A on the impact of genetic testing on individuals, families and society. Several centers plan to set up information booths in their hospital lobby and have arranged information sessions and lunch and learn events for hospital staff.

In it’s inaugural year, we expect to learn a lot and build on the experience for next year. We will collect feedback forms and photos and post them in the weeks to come on http://GeneticCounsellors.ca. Check back often to see how this develops. And who knows? Maybe next year we can collaborate with the NSGC to create a North America wide GC awareness initiative.

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Demographics and The Future of Genetic Counseling

Those who do not study and prepare for the future are doomed to live it rather than to shape it. Keeping an eye on what might be coming down the road in the next 30 years could help genetic counselors play a key role in 21st century medical care. Let’s look at the some of

the demographic factors that got us here and then try to figure out where things might be headed.

Since about 1980, genetic counselors have been surfing a significant and unrelenting demographic wave – delayed childbearing. The AMA rate (the percentage of pregnancies to women 35 and above) increased virtually every year from 5% in 1980 to  nearly 15% in 2008; this pattern is even more pronounced in many Western European nations. We were in the right place at the right time. With apologies to the Beach Boys, we caught a wave and we were sittin’ on top of the world. Incidentally, I have noticed an ever so slight flattening of the AMA rate in the US over the last few years; I am not saying that it’s a close out yet or that we should grab the next ankle buster that rolls in, but we should be keeping our eyes open for a different demographic heavy.

The growing AMA rate profoundly influenced the genetic counseling job market and the very practice of genetic counseling. For example, the number of genetic counseling jobs increased with:

  • The number of women seeking prenatal diagnosis due primarily to their age.
  • The false positive rate of serum and ultrasound screening for fetal aneuploidy, with much higher false positive rates for women over 35, resulting in more referrals for genetic counseling.
  • The number of referrals for infertility, which increases with the age of the parents.
  • More referrals for genetic counseling for breast cancer. Although delayed child-bearing itself is not a hallmark of hereditary breast cancer, it can result in younger age at diagnosis and hence more likely to lead to genetic counseling.

The AMA rate also helped to shape the ethos and face of genetic counseling. The Holy Ethical Trinity of genetic counseling – autonomy, informed consent, and reproductive freedom – is worshiped by the largely liberal and progressive AMA population. Not surprisingly, the demographic profile of genetic counselors broadly reflects the patient population they serve, i.e., middle to upper middle class well-educated white women. We have more or less been the socioeconomic, physical, and ethical mirror images of our patients.

Trends, of course, have a habit of being temporary. The AMA rate will likely eventually decline as socio-economic factors change, reproductive preferences fluctuate , and political  moods swing. So what other demographic trends might influence the future of genetic counseling? Here are some population projections for the year 2050, based on a report from the Pew Research Center:

  • About 20% of Americans will be foreign-born, which will be greater than the percentage of foreign-born Americans during the great migrations from Europe a century ago. Currently, about 12% of the US population is foreign-born.
  • Non-Hispanic whites will make up less than 50% of the US population
  • The  percentage of the US population who are Latino or Asian will  increase to 29% and 13%, up from 14% and 5%, respectively (to say nothing of the increase in people of mixed ethnicity).
  • The percentage of the US population 65 and older will increase from 12% to 19%

What might this mean for the practice and profession of genetic counseling profession? For simplicity’s sake, I am ignoring other factors that can influence the future of the profession, such as advances in medical technology, new health care delivery models, and changes in the economics of medical services.

First off, we must increase the ethnic diversity of the genetic counseling profession so that we – and our support staff – reflect the demographic make-up of our patients. This can  help overcome significant social and psychological barriers to medical services and improve the cultural awareness and sensitivity of the profession. Perhaps we can take a lesson from Canada, where immigrants already comprise 20% of the population. Secondly, the guiding ethical and counseling principles of the profession must evolve to be in tune with the many and varied beliefs of an ethically and ethnically diverse population.  Not every culture buys into the supremacy of individual autonomy, nondirectiveness, or other lofty ethical principles of Western medicine.

An aging population means that we will be seeing more patients who are physically and cognitively impaired. The traditional educational and counseling models utilized by genetic counselors may not be particularly effective for this segment of the population. Because it may not be so easy for older individuals to navigate to and around large urban medical centers we may need to increase our presence in alternative medical care settings. From a clinical standpoint, we will also need to be sensitive to new or unanticipated manifestations of genetic diseases.

Where do you see the genetic counseling profession in the next 10, 20, or 30 years? What demographic trends do you think are important? How can we best prepare ourselves? What did I miss? Where do you disagree with me?

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Filed under Robert Resta

There’s a Gene for Everything, Right?

Ten years after the completion of the Human Genome Project, our field is still debating genotype-phenotype correlations in single gene diseases, while the media is still searching for – and finding! – Gattacca.

This week, the Washington Post ran an article that asked “Is There a Gene For Liberals?”  Actually, only the headline and the first sentence asked that question.  The article itself dismissed the idea in line two: “Is there a gene for liberals?  Well, not quite, but scientists say they have found the first evidence that a gene can play a role in shaping an individual’s political leanings.” The piece goes on to detail a joint UC San Diego and Harvard longitudinal study showing that a single gene variant in combination with an active social life in high school (not junior high, not college, only high school) is associated with a modest increase in liberal political beliefs.  No relationship is seen except when the two are taken in tandem.

As Cher says in Clueless, the wounds of adolescence can take years to heal.

The writer calls this finding provocative, which I assume is a reference to the idea that this could be seen as genes dictating behavior, which hints at the scary thought shadowing all suggestions of biological determinism – the idea that we don’t have free will.  Perhaps liberal university professors and right wing radio Svengalis only channel us into the deeper ideological slavery into which we all are born.  Or not.

The rest of the article reports faithfully on the authors insistence that this “doesn’t mean a gene was found for anything,” and the relationship between the gene and the behavior cannot be seen as causal, but merely a window into how genes and experience interact to influence behavior.  This is explained in four careful paragraphs, at the end of which the writer says, of the authors’ call for further research, “Who knows, that could eventually lead to the discovery of a gene that plays a role in creating conservatives.”  So, lesson learned.

Here are two things the article does not define or question:

  1. What constitutes being “liberal.”
  2. What constitutes having “an active social life.”

In fact, going to the article Friendships Moderate an Association between a Dopamine Gene Variant and Political  Ideology in the Journal of Politics, the answers are as follows:

  • A person is liberal if they describe themselves as liberal, having been given a choice of liberal, moderate or conservative.  (This seems straightforward enough, although almost all my friends would, given this choice, describe themselves as liberal but there is enough difference of opinion between them to set a barn on fire.)
  • Having an active social life is defined by the number of people the respondents describe as friends, when allowed to pick any number between none and ten.  (I always thought that in high school the phrase “active social life” was code for who did and who did not get drunk on weekends.  I am discouraged to discover this new standard, which seems to suggest that I did not have as much fun in high school as I thought I did.)

Based on this irrefutable data (by which I mean bullsh*t), the results are calculated using a nifty looking formula of which I will reproduce only the first line:

gij = b0 + bbbi + bwwij + bEEij + bwEEijwij

I haven’t defined the parameters for you or completed the equation but perhaps this gives you the idea that while the data may be soft, the math is very very hard, especially for those of us who spent most of high school calculus sleeping off an active social life.

And of course, as always, the real educational effect of the article is to be found in the comments section, the essence of which is summarized in these two pithy remarks:

So now we can truthfully say that liberals are mutants? I suspected as much.

and

I think we already know the gene that makes conservatives…the poop gene.

Sigh.  I grow weary.  Everything we have learned in the past ten years suggests that genetics are far less deterministic than we had anticipated, and that both physiologically and psychologically we reflect a wondrously complex mix of genetics, epigenetics, environment, dumb luck and who knows whatever other factors – I myself am waiting to find out that astrology has a grain of truth after all, and that all these years I should have been reading my horoscope regularly, and not just when I got stuck on the tarmac with a two hour delay and nothing to read but an abandoned copy of Star magazine.

In the meantime, I beg you, journalists of the world, stop writing headlines that say, “Did Scientists Discover a Gene For X?” if the answer is NO.  You don’t write headlines that say, “Did Police Discover a Plot to Put Rat Poison in School Lunches?” if the answer is NO, just to get more people to read your article on improving the quality of meat.  I know you are busy and underpaid and everyone keeps threatening to take your job away and replace you with a blogger, but try to remember this: people only read the headline.  And this: genetics is complicated.

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Filed under Laura Hercher

SNPedia Gives an Open Call to Genetic Counselors

You may have heard rumblings about something called SNPedia. I finally got around to checking it out the other day.

Image credit: Stewart Butterfield (click image for link to original)

SNPedia has been called the ‘Wikipedia for DNA’ and to me it kind of seems like OMIM, but for SNPs. It is an online crowdsourced and publicly accessible database where you can find ‘information about the effects of variations in DNA, citing peer-reviewed scientific publications.’ SNPedia is totally independent of the companies that are selling DNA sequencing or microarray testing, and they are often consulted by people who are looking for a second opinion on a result reported in their DTC report. SNPedia is affiliated with a tool called ‘Promethease,’ which helps build a free report (in 3 hours!) for you based on your uploaded SNP-based data. Promethease can be used to pool the results for people who have data from multiple online SNP-based testing services (23andMe, Navigenics, deCODEme).  (Side note: I wonder how many people have purchased SNP-based testing from multiple online companies?)

Interestingly, in browsing the SNPedia FAQ page I stumbled upon this question:

“Can you refer me to a physician or a genetic counselor to discuss my SNP testing results?”

Their response:

Not yet. If you are a qualified physician or genetic counselor interested in helping individuals interpret their genomic test results or Promethease report please email us at info@snpedia.com.

I wondered if they have had any takers, so I sent an email. I learned that they had heard from one interested genetic counselor in past, but due to issues with the GC’s  institutional policies regarding referrals they were unable to make it work. In addition, they have had interactions with a handful of GCs who have contacted them to discuss results on a specific case they’ve been involved with.

I asked Greg Lennon, Co-Founder and Director of SNPedia how he envisions a genetic counselor might be able to collaborate with SNPedia. Here is his response:

We (SNPedia) welcome their input, especially in the form of edits to entries to improve their utility to other GCs and health care professionals (and of course, members of the public), but GCs should always also feel welcome to just email us (info@snpedia.com) with suggestions of any type, whether for edits they won’t or can’t do, or for features they’d like to see added to either SNPedia or it’s companion software, Promethease.

By now we all know that the cost of sequencing the genome isn’t going to be the major barrier in accessing our genomic data. It is going to be the interpretation of that data. SNPedia seems like a huge step forward in making sense of the wave of genomic info that is coming our way. And I think that our community has an opportunity here to help influence the way in which this information is delivered.

I’m interested to hear if any of you have experience with SNPedia, and what your thoughts are on their service, reporting etc. Also, if you have questions or suggestions about how GCs can collaborate with this service, please leave a comment below. As Bob Resta recently pointed out, ‘comments are what make blogs interesting.’

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Filed under Allie Janson Hazell

A Question of Race

Biological ancestry is an important part of genetic counseling. Sometimes we call it race or ethnicity, or ask “What countries are your ancestors from?” I am not quite sure what the difference is between race and ethnicity, though in the workaday world of genetic counseling, I over-simplify it for myself by thinking of  race, or more precisely, biological ancestry as relevant to genetic disease issues whereas ethnicity reflects sociocultural issues that are relevant to the counseling end of things.

There is much debate about the ethics, meaning, and utility of the terms “race” and “ethnicity.” The arguments for and against these concepts are intricate and complicated; just thinking about them gives me a headache. While the debate is important to genetic counseling, I want to put those arguments aside for a moment. Instead I want to look at the ways that patients respond to the question about their ancestry, and what those responses tell us about social issues, family relationships, stereotyping, and prejudice.

We have all heard many responses when we pose the question of biological ancestry to patients. The puzzled look, followed by “White.”  The consumer-society influenced “Heinz 57.” The patriotic “American.” The historical “My family has been here since the Mayflower” (given the number of times I’ve heard that one, the Mayflower must have held more passengers than Royal Caribbean’s Oasis of the Seas). Of course, many patients are proud of their ancestry.

Responses sometimes reflect social issues. In 1983 when I first started as a genetic counselor, my patients rarely answered that they were Native American. Over time, a certain amount of cachet has become attached to being at least partially Native American, that it somehow makes you exotic or cool if you have some “Indian blood.”  Now a surprising number of my patients  claim to have Native American ancestry. Yet when carefully questioned as to who in their lineage was Native American, the answer is often along the lines of “Well, my great-great-grandfather lived next door to someone who knew a Cherokee.” In many cases, if they had a nosebleed, they would lose their “Indian blood.” It is an interesting example of how, over time, intense hatred  can evolve into a distorted sense of pride toward a population group, an attitude shift which no doubt many Native Americans find questionable.

A patient’s answer may provide some insight into family dynamics. For example, the patient may say they are Swedish. When asked if they are full Swedish, the response can be “Well, we’re also German and Polish on my mother’s side, but my father was full Swedish and we were closer to his family, so we always say we are Swedish.”

Sometimes, prejudice and stereotype rear their ugly heads. I have particularly noticed this when I ask if the patient is Ashkenazi Jewish. More than once, I have gotten a harsh response along the lines of “I ain’t no Jew” accompanied by a derisive facial expression. More subtle stereotyping is evident when patients remark “Well I don’t think I am Jewish but I have a big nose” or “Maybe. I am very good with money.” Then they look nervously at me. Many patients think that I am Jewish, as do many of my colleagues. As much as we don’t like to admit it, we all engage in some level of stereotyping and apparently I fit a common Jewish stereotype – educated, from the East Coast,  healthcare professional, a physical appearance that roughly conforms to an idea of “Jewish.” In fact, I am a (ex)Catholic whose grandparents were born in Italy and Poland. Either verbally or with expressions, patients indicate that they are unsure if I am Jewish and worry that their remark offended me. In some weird way I feel like a “victim” of prejudice toward a group that I am not even a member of.  The remarks are slightly offensive, but not in the same way they would be to a counselor who is Jewish. Rarely do I hear a patient claim to be Jewish when they are not. Apparently, Native American is much higher on the Racial Coolness Hierarchy Scale than Jewish.

These peculiarities about biological ancestry also play out in the world of genetic ancestry testing. Just what value is that information for one’s sense of self? Is it merely an innocent curiosity, or is there a darker underlying truth about how people conceptualize race or ethnicity? Do people think DNA variants and country of origin are somehow biologically tied to behavior and temperament?  If you discover that one of your haplogroups is common in Ireland, will you start drinking excessive amounts of alcohol, have large dysfunctional families, develop a new interest in Lords of the Dance, and write great literature (or whatever your stereotype of how an Irishman behaves) simply because of some DNA polymorphisms?  Remember, too, that ultimately we are all out of Africa, wherever our ancestors paused or whoever they bred with along the way.

I would like to hear your experiences and thoughts about asking patients about their ancestry. Please leave comments; they are what make blogs interesting.

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Filed under Robert Resta

Stillbirths and Miscarriages: Taboo Subjects?

Why is it taboo to discuss miscarriages and stillbirths publically?

I had a recent discussion with friends regarding their thoughts on if miscarriages and stillbirths should be discussed publically.

Friends who announced their pregnancy early felt they had to defend their decision for an early announcement.  People kept asking them what they would do if they had a miscarriage.  Those friends would reply they chose to announce their pregnancy early so they would have a large circle of support if they were to have a miscarriage.

Does society wants us to look the other way if something “sad” happens?   Is it because we want to protect our family and friends from potentially “bad” news?  Is it because we don’t know how to react when hearing the news that a close one had a miscarriage or a stillbirth?  Is it because it makes us feel helpless?

This discussion bought up the role of social media in our daily life.  Sometimes I see Facebook status updates that a friend is pregnant, having contractions, or just had a boy/girl.  Every once in a while I see updates that a friend just had a miscarriage.

I have noticed people do not always know how to response when someone posts about  having a miscarriage.  Some become upset that this was posted and think it should be a 100% private matter.

I have also noticed a couple of friends posting pictures of their stillborn baby.  This seems to upset some people who feel something like this should be private and not posted.  Is it because people don’t want to deal with the sadder aspect of pregnancy and birth process?  Is it because they want to be protected in a sense and only hear the “good” things?   Is it because it scares people that this could happen to them?  People complain it’s inappropriate and inconsiderate for stillbirth pictures to be posted.

On the other hand, there are people who feel this is a great thing to do in the grieving process.  Just because they had a miscarriage or a stillbirth doesn’t mean they were never pregnant.  They still want to share their child with the world.  They don’t want to hide the baby-parent bond, they don’t want to hide their love, and they don’t want anyone to forget their baby.

This again, comes back to the fact that discussions of miscarriages and stillbirths is considered taboo in our society.  Should something that is common and a natural part of human life be hidden?  Or should it become more accepted that this is part of life and it’s ok to share it with others?

Personally, I believe people should be able to do what is most appropriate for them without feeling like they have to defend themselves.  Some people prefer to be more private while others prefer to be more public.  My personal belief is that people usually know what is the best for them in situations like this but there needs to be more support and acceptance from society for people to be able to make that decision.

What can we do as, genetic counselors, to help get rid of that taboo?

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Filed under Kelly Rogel