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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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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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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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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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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A DNA Day Surprise

There has been much sturm und drang lately about the ramifications of direct-to-consumer (DTC) genetic testing. Depending upon your point of view, either it’s the end of the world as we know it, or it’s a door opening into the future. These opinions seem to be based on, well, opinion, rather than a careful weighing of evidence – perhaps because there is no evidence.

A recent encounter with a patient who utilized DTC testing has forced me to confront my thoughts on this issue. I am purposely avoiding mentioning the name of the company – the company does not need free advertising, and the specific company does not matter to the issues at hand. I have modified the patient’s name and some personal details to be absolutely sure that anonymity is maintained.

 

Zoe, a bright and articulate 30-something Ashkenazi Jewish woman, called me on the advice of her primary care physician. She had no specific health problems or family history concerns, but likes to keep herself educated about health matters. She maintains a healthy life style and has long been interested in learning as much as possible about her disease risks. She does not have children, but would like to start a family in the near future. She came across the website of a DTC company that happened to be offering a special deal on their genetic screen to celebrate DNA Day. So, she and her sputum took the plunge.

The results were a mish-mash of not-particularly-helpful information such as a slightly higher risk for diabetes, slightly lower risk for cardiovascular disease, wet ear wax, and curly hair (which hung plumb-straight to her shoulders). But she didn’t call me to discuss her ability to smell asparagus metabolite in urine. Instead, right there,  nestled among the results of her Measure of Intelligence and her Longevity, was a deleterious BRCA mutation.

What does this mean, she asked me over the phone? I suggested she make an appointment with me or, if she preferred, she could ask the DNA testing company if they had certified genetic counselors on staff who could work with her. The company offered her a list of genetic counselors in her area, but did not themselves employ genetic counselors.  A few days later, she was in my office.

Creature of habit that I am, I began with a pedigree, but no matter how hard I shook the family tree, the only cancer that fell out was a late onset prostate cancer in a distant relative. Not surprisingly, one side of the family contained very few females. She peppered me with questions about cancer risks, screening, and prevention. She took it all in, duly taking notes and asking appropriate questions. Although the cancer risks were concerning to her, she was reassured by the availability of options to reduce her cancer risks or to improve the chances of detecting breast cancer at an early stage. She was not ready at this stage of her life to make surgical decisions. She had alerted her family to her results, and they planned to have a family meeting after she had met with me to discuss what they would do next. In short, it went pretty much like your average BRCA Positive Informing Session. She was quite satisfied with her dealings with the DTC company, and was planning on encouraging others in her social circle to consider testing as well. I sensed no significant emotional distress beyond what you would ordinarily expect.

The lab is CLIA-approved, and out-source the BRCA Ashkenazi Panel to a well-known lab. Although the patient was concerned that sputum was not as accurate as blood, I assured her that I saw no need to repeat her testing unless she wanted independent confirmation for her own peace of mind. But this would cost her about $600, and since there was no family history of cancer, it would not be covered by her insurance. The DTC lab charged her far less than that, and in her view, she received more information for less money.

For Zoe, DTC testing was a very positive experience. She received valuable information that could very well wind up saving her life. With no family history of cancer, she would not have started breast cancer screening for nearly another decade, and would likely otherwise never have pictured a risk-reducing salpingo-oophorectomy in her future. As an aside, I think it is a forceful example of the potential advantages to offering BRCA screening to all Ashkenazi women (yes, I recognize the possible downsides and intricacies too). It also partially counters the argument that we can tell patients more from pedigrees than we can from DNA tests.

Zoe was the ideal person to utilize DTC testing. She is bright, educated, and eager to improve her health and avoid disease. She had the financial means to pay for testing and counseling (neither of which were covered by her insurer). She is emotionally stable, and the information, while surprising to her, was not particularly upsetting to Zoe or (by her report) her family. While there could certainly be long-term psychosocial issues, my gut sense was that she was not at high risk for serious problems. Of course, one could easily imagine patients who might react very differently in this situation.

My criticisms of the experience are mostly minor. The written information provided by the lab about the implications of BRCA results was fairly minimal. I tried to contact the lab to ask technical questions, but the lab’s website does not offer a readily apparent Contact Us section. It took some digging around to find a general email address, and then it took the lab 2 days to reply to me. If labs and genetic counselors are going to work together, labs need to improve their communication with health professionals. The lab rep insisted that the results were not intended for medical purposes. But, come on, BRCA results can be a matter of life and death. DTC labs need to step up to the plate and clearly acknowledge that at least some of their results have very important implications for medical care beyond telling someone to exercise more, eat less, and hold your nose when you urinate after eating asparagus.

Zoe also learned that she is a carrier for a few potentially serious genetic diseases that could affect her reproductive decisions (which she found helpful). There was also the usual collection of “Self Evident Why Did They Bother Testing For This Stuff” traits like photic sneeze response, odor detection, pain sensitivity, etc. While it is easy to make fun of these, in spirit, the information is not very different than the type of information that couples seek from sperm and egg donors when going through assisted reproduction.

We need to report our experiences with patients like Zoe as case reports and with larger qualitative and quantitative studies. We have much to learn, and it can help inform policy decisions, patient experiences, and professional debates. We should not reject DTC testing outright; there are situations where it in fact it may be quite appropriate. Until we study the phenomenon, we have no right to form extreme opinions about it. Without information, it’s a an argument, not a debate.

Genetic counselors are sensitive to the psychosocial ramifications of genetic disease. But if we insist that everyone who has a genetic test first see a genetic counselor, are  we creating an aura of specialness and mystery about genetics that can be a factor in the development of psychosocial sequelae? Should we be setting aside genetic testing from other medical tests and treating it as SOMETHING VERY SPECIAL? Perhaps for some patients, genetic testing is not such a big deal, but if we insist that it is a big deal, we might be contributing to some of the very psychosocial problems we are looking to minimize.

I would like to hear from other genetic counselors who have worked with patients who have gone through DTC testing – the good, the bad, and the ugly.

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Healthcare, Bad Health and Health 2.0

Last year I gave a mini-presentation to a small group of genetic counselors titled Health 2.0: What It Is, and Why We Should Know About It. I wish I could have just shown this clip of Esther Dyson, who provides a much more concise and current overview of the subject. Take a look (via The Health Care Blog)– it is well worth the 3 minutes of your day.

Esther discusses the current health ecosystem as being comprised of three different markets: Healthcare, Bad Health and Health 2.0. While not directly related to genetic counseling, I think this is an important concept to be aware of.  And one that seems particularly relevant given the current climate of the FDA – DTC regulation debate.

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