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

Let Me Into Your Grief

“In three words I can sum up everything I’ve learned about life: it goes on.”
– Robert Frost

Grief, a constant in genetic counseling, is a normal reaction to death, the loss of hopes and dreams, suffering, shattered self-images, disrupted relationships, and the other emotional fallout of genetic disease. As part of our counseling work, we try to help patients express and explore their grief so that they can heal as much as possible and move on with their lives.

 

In his 1914 poem Home Burial, Robert Frost poignantly observes – as many genetic counselors have – how grief can follow different emotional arcs in men and women. The poem is set in the indoor staircase and entry of a house, and is essentially  a dialogue between a married couple who have recently lost their firstborn child.  The loss of her son is so overwhelming to the wife, Amy, that it is beyond verbalization; life is not going on for her. Her (unnamed) husband, in her eyes, does not have the same profound sense of loss. Both are profoundly sad but their different grieving styles have created a palpable tension in their relationship. The title of the poem refers as much to the child’s grave as to the emotions that are buried in the home.

The text  is taken from Collected Poems of Robert Frost, Henry Holt and Company, New York, 1930. I have added (H) and (W) to  indicate when the husband and wife are speaking, respectively. To appreciate its full depth, power, and beauty, shut your door, take a quiet break, and read it in its entirety. A few times. A well-done video about Frost’s life includes an excellent dramatization of Home Burial that would integrate nicely into a class discussion about grief. Incidentally, Robert Lee Frost, the quintessential Yankee poet, was born in San Francisco and was supposedly named after the great Southern general Robert E. Lee.

As the poem opens, the husband spots his wife at the top of the stairs where she is once again gazing out of a window. The husband climbs the stairs and demands:

(H) ‘What is it you see from up there always?—For I want to know….’

She, in her place, refused him any help….

She let him look, sure that he wouldn’t see,

Blind creature; and a while he didn’t see.

 

Eventually though he realizes that she has been staring at the grave of their child:

But at last he murmured ‘Oh’ and again, ‘Oh.’

(W)‘What is it – what?’

(H) ‘Just that I see.’

 

(W)’You don’t,’ she challenged. ‘Tell me what it is.’

(H)’But I understand; it is … the child’s mound –‘

 

The mention of their child’s grave triggers a flood of emotions for Amy:

(W)‘Don’t, don’t, don’t, don’t,’ she cried.

She withdrew,……

And turned on him with such a daunting look,

He said twice over before he knew himself:

(H)‘Can’t a man speak of his own child he’s lost?’

(W)I don’t know rightly that any man can.’

As she stands ready to escape out of the house, he pleads for her help so that he can understand her better, but is rebuffed:

(H) ‘There’s something I should like to ask you dear.’

(W) ‘You don’t know how to ask it.’

(H) ‘Help me, then.’

Her fingers moved the latch for reply.

(H) ‘My words are nearly always an offence.

I don’t know how to speak of anything

So as to please you…. A man must partly give up being a man

With women-folk.’

 

Amy once again tries to leave the house:

She moved the latch a little.

(H)‘Don’t – don’t go.

Don’t carry it to someone else this time.’

 

Desperate to get through to her, he pleads:

(H) ‘Tell me about it….Let me into your grief.’

And again he cries out

(H) ‘A man can’t speak of his own child that’s dead.’

She can’t understand his ability to bury their child and get on with life, and anger and disbelief pour out:

(W)You can’t because you don’t know how to speak.

If you had any feelings, you that dug

With your own hand – how could you?- his little grave;

Making the gravel leap and leap in the air,

Leap up, like that, like that, and land so lightly

And roll back down the mound beside the hole.

I thought, Who is that man? I don’t know you…..

You could sit there with the stains on your shoes

Of the fresh earth from your own baby’s grave

 

And talk about everyday concerns.

You had stood the spade up against the wall

Outside there in the entry….’

 

At this point, the husband thinks that Amy has finally aired her emotions and is ready to reconcile herself with the death of her child:

(H)‘There, you have said it all and you feel better.

Close the door.

The heart’s gone out of it: why keep it up.’…

(W) ‘You – oh, you think the talk is all. ‘

But Frost is not about to make it easy for the couple or the reader. This grief is too profound to be resolved with the bursting of Amy’s emotional dam. As the poem ends, Amy walks out the door:

(W) ‘I must go —…’

(H) ‘I’ll follow and bring you back by force. I will! —‘

 

The poem, the story, the couple’s relationship, and the reader’s desire for a happy ending are left hanging, exhausted and unresolved, on that simple dash.

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Filed under Robert Resta

Genetics and Teachers

Over the years, I have both volunteered and worked as a teacher’s aide in various classrooms.  I have several relatives and friends who are special education teachers.

Many children in special education programs have genetic conditions and I am always surprised at how little many teachers know about genetics.   This prevents them from understanding how they can work with their students in the best ways.  This prevents them from understanding what sort of medical issues each child might have and how to watch for red flags.  This also causes miscommunication between parents and teachers.

When I am able to explain what a genetic condition is to a teacher, I see a difference in their teaching approach.  They become more accepting and set realistic goals their students can achieve.  Those goals are usually set higher.

Teachers continue to see the child for who he/she is and do not allow the genetic condition to define their student.  Instead, they have a better understanding why certain behavior or medical issues may arise and are more prepared for those issues.  This in turn creates less stress for the student and parents.

This also leads to improved communication between parents and teachers.

Parents  enjoy being able to talk openly about concerns to someone who understands and knows their child.

Teachers also have a lot to teach us genetic professionals, I know this from personal experiences.

Should genetic professionals explore ways for making resources about genetics more accessible for teachers?  If so, how?

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Filed under Kelly Rogel