Here’s a fun visual representation of the most commonly used words on our blog in 2010. Looking forward to seeing what 2011 holds…
Mandatory newborn screening has made the news several times this month. News articles have touched on the following themes: concerns about privacy and discrimination, unnecessary uncertainty and anxiety, and the constitutional of newborn screening programs.
The Citizen’s Council of Health Care (CCHC) filed a suit against the State of Minnesota and the Minnesota Department of Health on behalf of nine families. Even though lower courts found that newborn screening program does not violate the 2006 state genetic privacy act (Minn. Stat. § 13.386, subds. 1-3) Minnesota’s Supreme Court has agreed to review the case.
Parents whose infants bloods were possibly stored and used in research without consent has filed a class action lawsuit against the Texas Department of State Health Services.
Mandatory newborn screening tests can save lives and improve quality of life for children but can also lead to uncertainty for families who receive unclear screening results. A UCLA study refers to this as “the collateral damage of newborn screening.”
**click on each underlined title to read the original news article**
This is a critical period for mandatory newborn screening programs. What are our responsibilities as genetic counselors? How can we improve mandatory newborn screening programs? Should information about newborn screening programs be more readily available? Should there be more support provided during the follow-up period?
|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.
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?
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.
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?
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:
- What constitutes being “liberal.”
- 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.
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.
You may have heard rumblings about something called SNPedia. I finally got around to checking it out the other day.
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?”
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 email@example.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 (firstname.lastname@example.org) 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.’