Category Archives: Guest Blogger

Guest Post: The Most Powerful Breakthrough in Genetic Science is…Hope

By Jim Small

 

Jim Small is an entrepreneur, speaker, author and successful real estate investor. A sudden family tragedy led him to discover his life’s purpose and career passion. Jim uses his real estate passion to help others create abundance and fulfill his life’s purpose of helping one million children reach their full potential. Jim is currently expanding his global reach on this mission by partnering with other world class speakers, motivators and industry game changers. Jim continues to speak around the world to groups about his personal journey and how others may find their purpose, passion and prosperity, through his Triumphant Legacy™ program (www.TriumphantLegacy.com).

Our family story and experiences with genetic counselors revolves around our oldest daughter, Sophia. Sophia was born totally typical with high APGAR scores and developed quite normally for her first year life. Then, somewhere between 15 to 18 months old, my wife and I noticed that she was regressing in her engagement with others – in her language and in her social skills — and she continued to deteriorate from there. We took Sophia to therapists and doctors, and the only thing that they could say was that she might potentially have the behaviorally diagnosed disorder of autism. So, for a couple of years, my wife and I tried to help Sophia with therapies, diet and alternative medical treatments, presuming that she had autism… and she really wasn’t getting any better.

A friend advised us to get a full-team assessment at a hospital in California. We took Sophia there for a work up which included neurologists, cardiologists, gastroenterologists, infectious disease doctors, immunologists – the full gamut. These specialists evaluated Sophia and then met as a team. One of the outcomes was to do some additional genetic screening for Sophia. She had already been tested for Fragile X, Rett Syndrome, Angelman and some other things that had all come up negative in the past, so my wife and I reluctantly agreed to do some more blood draws for additional genetic tests. When the results came back, we were asked to return to the hospital to discuss the findings with a neurologist and a genetic counselor. Before the meeting, Audra was told over the phone that Sophia had tested positive for Rett Syndrome and we were then sent the test results.

Not really knowing what Rett was, we waited to meet with the neurologist and the genetic counselor to learn about it. Our appointment was horrible. The doctor was clearly very experienced in neurology and she briefly explained a little bit about the genetic mechanism that causes Rett Syndrome – a mutation of the MECP2 gene on the X chromosome. Then the genetic counselor started to guide the conversation as she handed us a book on Rett syndrome. They both proceeded to tell us all the things that Sophia would NOT be able to do, how horrible her prognosis was, how difficult her life would be and how sorry they were that no treatments were known or forthcoming to help with the situation.

Needless to say, my wife and I left there feeling quite shocked, devastated and powerless. Basically, we went home and waited for our daughter to deteriorate as they said she would, doing nothing to improve her health for the next six months.

Then, as we were trying to treat her seizures (one symptom of Rett syndrome), we ended up seeing a neurologist at a hospital in Massachusetts, who suggested that we meet with a geneticist and a genetic counselor affiliated with that hospital and a very prominent medical school. Naturally, my wife and I were reluctant to do so after our experience at the hospital in California, but we really respected this neurologist, as he was extremely insightful, up on the research and very progressive. So we agreed to see this new geneticist in Boston. In meeting with him, we were given hope for the first time – he explained that there had been a reversal of Rett Syndrome symptoms in mice and that he was of the belief that in the coming years, we would be able to find a mechanism to help girls like Sophia reverse Rett syndrome completely. Moreover, he had been working with girls with Rett syndrome for many years, and told us that girls who presented like Sophia actually have a much better prognosis than what was described to us bythe genetic counselor at the California hospital.

Then his genetic counselor colleague came in to join the conversation. She explained once again the cause of Rett syndrome, and then began to elaborate on how they were looking into trials for particular drugs and treatments that may reduce the severity. Both the doctor and the genetic counselor stressed the many girls they had seen, like our daughter, who ended up having all kinds of abilities that weren’t in the text books and weren’t part of the old school prognosis (which they believed was outdated) and suggested that the future for our daughter was actually quite positive. Although my wife and I respect the first doctor’s and genetic counselor’s prognosis as historically accurate, we were struck with the 180 degree difference between that negative and de-motivating scenario and the hopeful perspective of the second geneticist.

Working with the team in Massachusetts, wife and I have felt very empowered and optimistic about our daughter’s future. Although the research available to both groups of genetic counselors was the same, the presentation of the facts, the future, and the prognosis were dramatically different. We hope that all families experiencing an issue that requires the help of a genetic counselor will have an experience as favorable as our second encounter, where we got hope along with the facts and an understanding of the reality. I think that optimism can make genetic counselors more effective, more empowering and more giving.

With medicine, nobody knows the future. Although experience and literature allows us to be familiar with the past, no one ever knows what scientific and medical breakthroughs will happen over the course of a human lifetime. So, as genetic counselors provide information, help and resources to families, I think it’s critical that they remain optimistic about the potential changes we are going to see in the future and how those will, almost inevitably, make the prognosis for today’s patients affected by genetic disease much, much better.Sophia_and_Daddy

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Guest Post: Genetic Counseling Is Like A Soap Opera, by Laila Rhee Morris

Laila Rhee Morris is a genetic counselor in California. She graduated from the Sarah Lawrence College training program in 1992. She loves children, animals, trivia and recycling. Her interests include movies, TV and books that feature genetics.

You could say that I became interested in genetics, healthcare, and soap operas simultaneously. When I was in the 7th grade, I contracted mononucleosis, “the kissing disease,” although, at that point, I was not kissing anyone except the family pets. The fact that a virus was making my white blood cells multiply wildly seems to have sparked my first curiosity about genetics. Mononucleosis completely exhausted me, and my mother mercifully relaxed her 10 hours per week TV rule, which is how I became addicted to soap operas.

After 22 years I find that my genetic counseling sessions can resemble a soap opera. The messy human drama  – and sometimes comedy) – plays out in the sessions, hospital rooms, and can even spill over into waiting rooms. But all this is not for my amusement; my job is to help people pick up the pieces of their lives.

I love to tell people that I once wrote a genetic counseling story-line for a soap opera. About 20 years ago, the producers of the soap opera Loving (ABC TV: 1983-1995) called the clinic in New York where I was working to request the help of a genetic counselor to devise a plot-line whereby their star actress, Susan Keith, could have a pregnancy with an unclear ultrasound finding. I excitedly volunteered right away, correctly guessing that my supervisor, Nancy Zellers, would be too busy to take on this task.

I felt vindicated that all those hours that I spent watching were not a waste and I felt as if, finally, these TV people had come to me to develop a decent dramatic story with a foothold in the real world of genetics. The guidelines were that the character had to have prenatal ultrasound finding where the baby could be normal or could have problems after birth. Susan Keith* played Shana Sloane Vocheck Burnell; she was a pretty actress with mountains of red hair. Somewhere in my devious mind or maybe from an actual case, I decided that Shana should have a prenatal ultrasound that detected agenesis of the corpus callosum (ACC) in the fetus.

Shana went for her ultrasound probably expecting everything to be normal, as most real patients do, and thinking that the only point to this ultrasound exam would be to determine whether she was having a girl or a boy. After the ACC diagnosis, the writers had Shana meet with a genetic counselor. Gasp. Can you think of a single TV show or movie where there has been a genetic counselor character?

The genetic counselor character was featured for one day. The producers made it a point to tell me that they even went to the expense to fly out a veteran (show business speak for “older”) actress from Los Angeles to play the role of the genetic counselor (GC). Oh my, the scene with the genetic counselor was just awful. I did not think to record it and thus nothing is left of my masterpiece.

On the positive side, the actress did look like a GC or at least those that I had encountered up to that point during my training. She was an older, kindly appearing Caucasian woman. My cringe worthy moments started the minute that she opened her mouth and introduced herself as “a genetics counselor,” with the “S.”** Then, she ushered Shana and her partner to her office and sat behind a mahogany desk to deliver the bad news. As Shana sobbed and dropped the entire contents of her purse on the ground, the GC excused herself to go take care of something more important in another room. The GC didn’t even offer poor Shana a tissue as Shana was crouching on the carpet in a puddle of tears. On Loving, Shana’s ACC story line went on and on, drawn out for more weeks than a real pregnancy lasts, until Shana eventually delivered an apparently healthy baby girl.

I also want to point out that the soap operas can be educational. They were some great genetic storylines. The 1980 General Hospital paternity storyline involving the Bombay blood phenotype is featured on an NIH website and on YouTube.

After moving away from New York city 20 years ago, I have no time to watch TV and most of the soap operas have been cancelled. Sadly, my soap opera days seem to be behind me but isn’t being let into our patients’ complicated lives (and helping them) the ultimate human drama?

 

*A different Loving clip featuring Susan Keith can be found on youtube.com at http://www.youtube.com/watch?v=_Iy45gvOXlY Interestingly, this clip features Susan Keith smooching with her real life husband, James Kiberd

** There are some people (Bob Resta is one) who like the “S” in genetics counselor because it sounds as if we are counseling about the field of genetics. I know that it is not an apostrophe “S” but my opinion is that genetics with the S is a tongue twister and makes me sound like a Castilian Spanish aristocrat. I am certain that the original Loving script reflected my preference: the without the “S” variation.

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Guest Post: NIPS: A Call to Embrace and Educate!

By Lisa Demers

Lisa Demers is a certified genetic counselor working in a prenatal diagnosis program at Dartmouth-Hitchcock in Nashua, NH.  She graduated from the Arcadia Genetic Counseling Program in 2003.  Lisa has been president of the New England Regional Genetics Group, is a member of the New Hampshire Perinatal Loss Taskforce, and is the proud mother of two little boys who teach her more and more about Star Wars every day. 

I feel like it’s time to show some appreciation for the amazing screening test that has truly enhanced the prenatal screening world.  Non-invasive prenatal screening (NIPS) has taken our prenatal world by storm and is rapidly infiltrating university hospitals and private practices alike.  This is a change (who really likes change?) and it’s fast.   Testing has jumped out of the controlled hands of research laboratory scientists and into the lucrative playing field of investor-backed industry.  But is this a bad thing?

NIPS has taken traditional screening and made it better.  There is no denying that NIPS is a superior screening test.  The benefit of NIPS over traditional screening is acknowledged by the rapid approval of coverage by major insurance plans. I applaud Katie Stoll in her eloquent summary of the discrepant positive predictive value (PPV), but I do not think this area of ambiguity should overshadow the benefits of testing.  The PPV for a “high risk” (or whatever language the report contains) sample, even if it is 11% (using the data in Katie’s initial post), is about the same as a 1 in 9 risk for trisomy 18 using traditional methods.   So is the counseling really very different?   “This screening test suggests a very high risk for trisomy 18, diagnostic testing will tell us for sure”.

Our knowledge about how to best utilize this test and interpret the results is an ongoing process.  This is completely on par with other technologies. At one point, supernumary rings were identified on karyotype with little way to identify the origin.  The argument that we shouldn’t use a technology until we completely understand it is unreasonable.  We need large testing numbers to give us these uncertain results so that we can learn from them.  Ambiguity with test results is hardly a new concept for us.  Genetic counselors deal with this all the time!  Our counseling isn’t really changing; it’s just the same uncertainty coming from a different test.

I argue that this test provides much LESS ambiguity since most women are getting reassuring results.  The number of women who are screen positive is dramatically decreased.   Fewer women being anxious, fewer amnios being considered and performed, and fewer losses of otherwise normal babies.    And why wouldn’t an informed patient want the BEST screening test?   And why wouldn’t providers want to offer it?

I absolutely acknowledge that not all patients are fully informed about NIPS prior to testing, and I hate to think about the ignorance that providers may pass along to patients.  But what genetic counselor hasn’t had a patient arrive at their office with an abnormal screening result thinking that their baby is, in fact, affected?  We hear this endlessly.  And how long has traditional screening been around?  And those results even have a risk estimate listed!  Sometimes I like being the hero in these situations “You mean my pregnancy is at a one percent risk for Down syndrome?  What a relief!”  The misinterpretation of testing results is inevitable.  We should not back away from better testing simply because some people do not understand.

While I agree that I would prefer that the commercial labs present their results with some more obvious notation of the limitations of the testing, no report can eliminate ignorance.  So perhaps our focus can be a shift to better education.  After all, isn’t that we do?  We need to talk with providers in our area and help them understand the test more clearly.  Review with the nursing staff when a referral is sent to us that the results are screening and not diagnostic.  I can tell you that in my own experience, education isn’t always successful because I still have providers who offer universal SMA and Fragile X testing without being able to interpret the results. *Sigh*  But these patients are ultimately referred for counseling, and I consider that a success.

Education at the patient level is important too.  Group counseling sessions can be an effective way to inform the pregnant population, especially about universal topics like screening.  The overwhelming task of education is not unique to prenatal genetic counselors, but to the profession as a whole.  Rather than hold back on a test that is truly superior because providers misunderstand it, why don’t we try to tackle the larger issue of provider education?

What I hope is that the consumers of NIPS can work closely with the industry providers to further study the performance of this technology to better understand cell free fetal DNA and its utility in pregnancy screening.  Let’s work together in educating providers about the testing and the importance of pre-test counseling.  Patients deserve it.  Without the cooperation and participation from genetic counselors we risk delaying universal acceptance of NIPS.  Let’s all jump aboard and steer this train.

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Guest Post: Adrienne Asch – Reflections from a Genetic Counselor

by Katie Stoll

Katie Stoll is a genetic counselor in Washington State. She graduated from the Brandeis University training program in 2003 and since that time has held positions in the areas of prenatal, pediatric and cancer genetic counseling.

We recently said good-bye to Adrienne Asch, a thoughtful and powerful voice in bioethics, disability, and reproductive rights. Adrienne passed away at her home in New York on November 19, 2013, surrounded by the love of many friends and family.

Adrienne touched my life deeply in the brief time I knew her and I am grateful to have had a connection with her. Her perspective has significantly shaped the way I view the genetic counseling profession and my role within it.

Adrienne was an accomplished scholar and an incredible person. Several beautiful tributes speak of character and her accomplishments, and these only give us a glimpse of her impressive body of work. See the The New York Times, as well as blogs related to philosophy, feminism, and bioethics for more about Adrienne.

Many genetic counselors are aware of Adrienne’s focus on the intersection of disability rights with reproductive technologies.   She was supportive of abortion rights, but questioned the implications of prenatal diagnosis and selection for disability rights, for individual parent expectations, and for humanity. She asked the question, if individuals with disabilities are not welcomed into family life, how can we expect inclusion in schools, in the work place, in society?

In her scholarly work, Adrienne spoke frequently about the parent-child relationship, and I had often wondered about her personal experiences as a child in this relationship. I came across the transcript of a fantastic interview with Adrienne conducted by Anna Kirkland at the University of Michigan, in 2006. I was delighted to find these insights into Adrienne’s own family life and it is heartening to realize that Adrienne’s views on this topic were in part shaped by her own childhood experiences of being supported to be true to herself:

“My parents taught me to think for myself and to be comfortable with who I was, even if people around me weren’t entirely comfortable with who I was either as a leftwing type or somebody who loved classical music, or someone who was Jewish, or someone who was blind. So they just taught me to be myself.” 

At one point the interviewer asking Adrienne if she had ever had the opportunity to address genetic counseling students. Adrienne has been an outspoken critic of prenatal diagnosis and this has made her quite a controversial figure among genetic counselors.

Anna: I’d be interested to know, have you ever had the opportunity to address a group of genetic counseling students or…or… 

Adrienne:  Yes. I have. 

Anna: Yeah. How did that go? 

Adrienne:  Not well. 

Anna: [laughs] What [laughs]…what did you say to them? 

Adrienne:  The same kind of thing I’m saying to you. But it challenges…I mean, maybe that I haven’t said it gently and kindly enough and I’m trying to do that. I have sympathy for how difficult it is to do this work. But I have no sympathy for people telling me that parents aren’t interested in this information or it’s not appropriate to give them the kinds of information that I’m describing. I think in fact that’s what genuine information is.

Recently, I had a chance to work closely with Adrienne when she helped to conceptualize a symposium for the National Society of Genetic Counselors Annual Education Conference, Reaching for Common Ground: Prenatal Genetic Counseling and Disability Equality. Although  Adrienne’s health prevented her from traveling to Los Angeles for the meeting, she was determined to hear all of the presentations live and to participate in the conversation. We achieved this through the technological miracles of cell phones, speakers and microphones for the entire 6 hour conference and this allowed her to both listen and contribute to the conversation.

In early October, she recorded a video for this conference and the National Society of Genetic Counselors has kindly allowed me to share it here. I encourage you all to take the time to listen to Adrienne’s final address to genetic counselors. I think she finds the balance she was striving for in being sympathetic to the difficulties inherent in the work of genetic counseling and remaining strong in her challenge to our profession to be more than genetic educators.

In genetic counseling, you have an enormously important role to play in helping prospective parents’ to think about the meaning for themselves of the genetic impairments or prenatally diagnosable impairments that they might discover in a fetus or an embryo.   And the role that you have to play is not genetics education alone.  It is genuine counseling.  It is counseling with a genetic component.  But it is dialogic counseling.  It is not merely reciting facts about laws and services and family support for people with Down syndrome.  It’s not reciting how wonderful it is and how loving the children are…It’s not reciting how terrible it is and how bad group homes might be.  It’s asking parents to think about the goals they have for their family life and how a child with characteristics that they can know in advanced will affect the achievement of those goals… The other reason you have a big job is that you are not given much time in which to do it. And all of the institutional forces work against that kind of conversation.  But I am urging that genetic counselors take their respective places as counselors to really help prospective parents think through what they want for their family life.  How a particular characteristic or impairment will affect that…

…Just as life is made up of many experiences that are shareable, you don’t need to have particular characteristics in common to share a life and to share experiences.  And you as a genetic counselor have an opportunity to communicate that to prospective parents. And ask prospective parents to think about what they want in their family’s lives.  And whether a child with a particular characteristic you can name in advanced will make the achievement of those goals any harder or any less possible. 

That’s a job of real counseling.  It’s not a job of imposing your values.  It can be as nondirective as you like but it is a job of asking questions maybe questions parents don’t want to be asked but that’s often true of any counseling.  No therapist worth his or her salt merely smiles and nods and says, “Ahah!”, and says, “I see what you mean”.  Therapy and counseling are about asking people to reflect and think twice or three times about the views and the values they are bringing to their lives.  You don’t have three years or 3 months or sometimes even 3 weeks to do that with the people in front of you.  But in the 45 minutes to an hour that you have, or if you’re lucky, more than that, you have a chance to communicate the joys of parenthood, the problems of parenthood, and the ways in which a child with any set of characteristics may or may not fulfill the goals that a parent has.”

Part of our fundamental core professional values as genetic counselors is to be non-directive in our counseling – not to decide the morally ‘right’ path for pour patients. We strive to support individuals to choose the path that they decide is right for them. Our responsibility as genetic counselors is to do our best to make certain that the decisions people make are as informed as possible.

What Adrienne helped to crystallize for me is that part of ensuring informed decisions requires inquiry into of the prospective parent’s expectations, hopes and dreams. It may also call for us to challenge misconceptions about how life with a disability is imagined and this may need to begin first with examining our own misconceptions and biases.

Adrienne certainly dismantled my preconceptions about life and limitations for someone who has been blind since shortly after birth. Although too short, her life was undeniably rich and full and her contributions were many. I imagine there are many DNA Exchange readers who have some interesting reflections about Adrienne of their own. I hope you will share them here.

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Guest Post: NIPS And The Threat To Informed Decision Making

by Katie Stoll

Katie Stoll is a genetic counselor in Washington State. She graduated from the Brandeis University training program in 2003 and since that time has held positions in the areas of prenatal, pediatric and cancer genetic counseling.

A few months ago, I reached out to the DNA Exchange readership and called for more truth in advertising by the Noninvasive Prenatal Screening companies regarding the accuracy of test results. I recently returned from the National Society of Genetic Counselors meeting where I had the opportunity to survey the marketing and patient materials from labs offering NIPS and to learn about the experiences of my fellow genetic counselors with these new tests.

Not surprisingly, in this dynamic and rapidly evolving field, all of the companies have updated their materials. Some brochures proudly acknowledge how quickly this testing is being integrated into clinical use. It feels like we are being patted on the back for adopting this new test quickly and without question.

I remain very concerned about the misleading claims in the marketing materials aimed at providers and in the patient directed brochures. It is easy to see how the language of the brochures could lead healthcare providers and patients to conclude that these tests are diagnostic or near-diagnostic. These quotes from the materials illustrate my point:

“Definite, informative results.”

“Positive or negative results.  Never maybe.”

“No confusion.  Just simple, clear results.”

To my knowledge, there are no new large studies to dispel my concerns about the positive predictive value of NIPS. Depending on the prior probability, a significant portion of positive results may be false positives– especially with rarer conditions such as Trisomy 18 and Trisomy 13. And because these technologies have been rapidly integrated into clinical practice based on limited research, we do not have robust outcome data to see how false positive and false negative data are playing out in clinical practice.

Since most NIPS testing is done outside of a clinical research protocol, the labs that choose to put resources into follow-up are at the mercy of the providers to share that outcomes information.  Even in the best scenarios, voluntarily reported outcome data are not likely to tell the whole story. I spoke with a testing company representative regarding a poster presented at ACMG last year which based its false positive and false negative results on ad hoc feedback. When I inquired about the meaning of ad hoc feedback, it was explained to me that the company didn’t have the resources to track outcomes so were relying on providers to let them know if the testing results were incorrect. Of course, if a patient terminates her pregnancy based on a false positive test result, nobody will know that the NIPS result was incorrect.

Don’t think a patient would terminate based on NIPS alone? We all hope that women who receive adequate counseling about the limitations of the testing would confirm results with a diagnostic test, but this is not always the case. At a presentation during the recent NSGC Annual Education Conference, one lab referenced preliminary data showing some patients are terminating pregnancies without first getting diagnostic testing, and in the absence of ultrasound findings. While this tracking has some limitations, this lab should be applauded for investing resources in tracking outcomes data and for sharing these data with genetic counselors. Hopefully we will see it published soon and other labs will follow suit.

This situation of patients making reproductive decisions based only on NIPS results may be particularly problematic in communities that don’t have ready access to genetic counseling and/or maternal fetal medicine services.

Imagine this scenario:  a 35-year-old woman living in small town, USA who has limited access to abortion services beyond the first trimester, receives a positive result for Trisomy 13. Based on positive predictive values calculations, there is an 8% chance that her “positive” result is a true positive. But, the patient – and her doctor – may think the probability is much higher, maybe even close to 100%, based on the reporting practices of the labs, which may say “Aneuploidy detected” or “Positive” for Trisomy 13. This does not support informed reproductive decisions.

This patient has 3 options:

  1.  Wait for an appointment at a high risk referral center, at some distance from her home to undergo diagnostic testing. This may limit her reproductive options by delaying time to diagnosis (the later a pregnancy termination occurs, the more expensive it is, and pregnancy termination outside of the first trimester is often not available in many smaller communities).
  2. Seek out pregnancy termination options in her local community based on the NIPS results alone – knowing that she is up against a gestational age ticking clock.
  3. Decline further testing and continue the pregnancy.

If the patient feels that she would not want to continue a pregnancy given a Trisomy 13 diagnosis, and she understands the limitations of the testing, I would imagine that she likely would feel it was worth the wait and the travel for diagnostic testing. However, given the emphasis on the accuracy of NIPS based on the lab reports, and the misconception by OB providers that this testing is “nearly diagnostic”, it is easy to imagine a scenario where she may elect to have a termination based on NIPS alone.

Based on an aggregate of data from the NIPS companies from the first quarter of 2013, one health economist estimates that NIPS is utilized by 40% of the high-risk population in the US, and this number is growing rapidly. So while the patients you see in your genetic counseling practice may be very informed about the limitations of the testing given your expert counsel, this statistic suggests that most NIPS is probably taking place outside of our offices.

We must continue the conversation about how NIPS is marketed and used in prenatal care. While the advantages to a more sensitive screening test are obvious (e.g. fewer women needing to undergo diagnostic testing), we must recognize the largely undisclosed limitations and dangers. Without adequate counseling, patients are being harmed by the misleading claims about the accuracy

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Guest Post: NIPS Is Not Diagnostic – Convincing Our Patients And Convincing Ourselves

By Katie Stoll, MS

Katie Stoll is a genetic counselor in Washington State. She graduated from the Brandeis University training program in 2003 and since that time has held positions in the areas of prenatal, pediatric and cancer genetics.

A couple of years ago we were just beginning to learn about a new prenatal testing technology termed Noninvasive Prenatal Diagnosis. It was soon relabeled as Noninvasive Prenatal Testing, and now the American College of Medical Genetics and Genomics recommends this be taken one step further by terming it Noninvasive Prenatal Screening (NIPS) to highlight the limitations of this new technology.

As currently reported by labs, NIPS presents new challenges for genetic counselors. Of particular importance is figuring out how to convey to patients and healthcare providers why relying on sensitivity and specificity alone may lead to misinterpreted results. In the absence of positive and negative predictive values there may be a tendency to assume that the high sensitivity and specificity reported with NIPS means that these tests are more powerful – more diagnostic – than they actually are.  

It is imperative that we understand both what the terms mean and how they relate to a person’s likelihood of having a condition.   Sensitivity measures the true positive rate – the proportion of actual positives which are correctly identified as such (e.g., the percentage of fetuses with Down syndrome (DS) who have a positive test result). Specificity measures the true negative rate – the proportion of actual negatives which are correctly identified as such (e.g., the percentage of fetuses who do not have Down syndrome who have a negative NIPS result for DS).

A test can have both a high sensitivity and specificity without being a good predictor of whether the condition is actually present. The likelihood that a positive test is a true positive result also depends on the incidence of the condition.

Sensitivity Graph

Genetic counselors are used to thinking about aneuploidy screening in terms of PPV, as this is generally the format for reporting maternal analyte screening such as Integrated , Quad screens, etc. Analyte screening takes into account the prior probability based on maternal age and provides a PPV as the end result. For instance, an analyte screen result may be reported as Positive with a 1 in 50 chance of Down syndrome. The PPV with analyte screening lets us know how many patients with a “positive” test will actually have a pregnancy affected with the condition and reporting results this way makes it clear that this is a screening test.

Can we apply the same interpretation to NIPS results?  Some labs provide a “risk score” which appears similar to what we see with analyte screening, but I am told by the labs that the vast majority will be reported as either >99% chance or <.01% chance.  Some labs do not report a risk score, instead giving essentially a positive or negative result. But does this mean that greater than 99% of women who receive a >99% or a positive result are actually carrying a fetus with Down syndrome or other chromosome condition?

Given that women 35 year and older are a population targeted for NIPS let me work out the expected NIPS results given the approximate sensitivities and specificities reported for a hypothetical population of 100,000 thirty-five-year old women (while I cannot tell you the specific number of women age 35 who give birth per year, CDC data suggests that for the past several years about 400,000 – 500,000 women in the age 35-39 have given birth each year in the United States – so 100,00 births annually by 35-year-old mothers is probably in the ball park of the national trend.

The performance data vary significantly from lab to lab – for the purpose of this illustration, I am using sensitivity and specificity in the range of what has been reported.  The data below are based on the chance of Trisomy 21, 18 and 13 at the time of amniocentesis for a woman 35 at time of EDD1.

Down Syndrome

Trisomy 18

Trisomy 13

Incidence

1/250

1 / 2000

1 / 5000

Affected Fetuses

400

50

20

Sensitivity

99.5%

98.0%

90.0%

Specificity

99.9%

99.6%

99.8%

Total test positives

498

449

218

True test positives

398

49

18

False positives

100

400

200

Positive Predictive Value

80%

11%

8%

If we add all of the positive results together in a population of 100,000 thirty-five-year old women we see that 1165 (1.2%) have positive test results for Trisomy 21, Trisomy 18 or Trisomy 13.  Note, though, that only 465 of these results will be true positives. This indicates that the majority of the time (greater than 60% using these statistics), a positive result on NIPS for a 35-year-old woman will be a false positive - and this doesn’t even include calculations for sex chromosome aneuploidy which some NIPS labs also screen for.

Notably, the negative predictive value for NIPS is very high indicating that a negative test result is a true negative >99% of the time. But how do we reconcile that for many women, the chance of a false positive with NIPS may be higher than the chance of a true positive result when that seems to be contradicted by way the labs are reporting the results? 

In trying to explain the chance of a false positive result to patients with a “positive” test report in hand, I have found that I am met with disbelief. I can understand why – if a test says there is a>99% chance of Down syndrome and the lab says the test has >99% sensitivity and >99% specificity, how could this test be wrong?

While genetic counselors understand the limitations, the reporting practices of the labs place us in a position in which we have to work hard to convince our patients that NIPS is only a screening test.

Currently four labs offer NIPS in the U.S. and all have different strengths and weaknesses in their reporting practices. All could be improved by making the limitations of this technology more obvious.  In some cases the language used in the reports gives the appearance that NIPS is diagnostic. For example, one company’s report suggests that the healthcare provider should advise for “additional diagnostic testing”.  The labs vary in whether the need for genetic counseling following a positive result is recommended.  Additionally there is variability in the transparency of how the performance data are derived.

Given that the performance statistics vary significantly, we need to be sure to take these details into account when considering PPV. I  encourage genetic counselors and other healthcare providers to critically look at how the performance data are derived.  The sample sizes on which these numbers are based are often quite small and the confidence intervals can be broad.  I was surprised to see in the fine print of one report that the performance data “excludes cases with evidence of fetal and/or placental mosaicism.” Given that mosaicism is a known cause of false positive results and because mosaicism cannot be definitively determined through NIPS, it doesn’t seem accurate that these cases should be excluded from calculations of test performance.

The pitfalls of interpreting NIPS results is a challenge we need to address because NIPS is increasingly taking place without the involvement of genetic counselors in pretest or post-test counseling. There is real concern that patients are making pregnancy decisions based on screening tests with the misunderstanding that NIPS is diagnostic. 

I write this as call to the NIPS labs to change their reporting practices to better emphasize the screening nature of this technology. Providing some positive predictive value estimates would be tremendously helpful as we try to make sense of NIPS results for our patients. While it may be difficult to provide individualized risk assessment, a general table of how prior probability impacts individual test performance would be beneficial for interpretation. Furthermore, eliminating language from the reports that suggests these tests are diagnostic and giving more transparency to ways in which performance data are calculated would also be welcome changes.

As genetic counselors, we strive to ensure informed decision-making for the clients we see. Key to informed decision-making is an understanding of the limitations of this evolving technology. As fellow patient advocates, I hope the genetic counseling community will join me in requesting increased accountability and responsible reporting on the part of the labs regarding NIPS.

 

I would like to acknowledge Evan Stoll, retired GAO data analyst for his contributions to this piece.

 

  1. Hook EB. Prevalence, risks and recurrence. In: Brock DJH, Rodeck CH, Ferguson-Smith MA, editors. Prenatal Diagnosis and Screening. Edinburgh: Churchill Livingston, 1992.

 

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Guest Post: An Education in ‘Re-identification': Learning From the Personal Genome Project

By LEILA JAMAL, ScM

Leila Jamal is a genetic counselor in pediatric neurology and a PhD student in Bioethics and Health Policy.  The views expressed here are hers and hers only.

As many are now aware, Latanya Sweeney and her colleagues at Harvard’s Data Privacy Lab recently published a study demonstrating the individual “re-identifiability” of research participants in the Personal Genome Project (PGP).  Despite misleading news coverage overstating the proportion of individuals Sweeney’s team re-identified (using self-reported birthdates, genders, and zip codes) the study has sparked some useful discussions about the implications of ‘re-identifiability’ for genomic research and the ethics of re-identification demonstrations.  For a comprehensive roundup of these issues, I recommend reading a series of perspectives corralled by Michelle N. Meyer in her Online Re-Identification Symposium over at the Petrie-Flom Center’s Bill of Health.  This post will not match the breadth and depth of insight covered by my friends and colleagues there.   My more modest aim is to contemplate what genomic researchers and counselors can learn from the ripple effects of Sweeney’s study.

The PGP is demonstration project in its own right, with one of its goals being to “explore the opportunities, risks, and impacts of public genomics research”.   As clairvoyants who saw the pitfalls of guaranteeing anonymity to participants in whole-genome research early on, PGP founder George Church and colleagues developed a novel strategy for securing the trust of prospective participants by privileging the principle of “veracity” in their informed consent process.  Accordingly, the PGP informed consent form clearly tells prospective participants that any personal data they contribute to the PGP may be linked to their individual names.

By pursuing this strategy, the PGP nudged a shift in our thinking about the risks of genomic research.  The emphasis on veracity reflects a subordination of concern about risks to individuals posed by anonymity breeches in favor of concern about risks to genomic research posed by breeches of researcher-participant trust.   Since its inception in 2005, the PGP has reciprocated the openness of its participants by developing open-source research tools, hosting them at an annual education meeting, returning their individual research data, and keeping them abreast of the PGP’s activities with blog updates.

In light of the PGP’s emphasis on transparency and data-sharing, a key question raised in the aftermath of the Sweeney et al. study is whether participants had a “right” to be distressed – or even surprised – that their identities were (potentially) made public by a third-party demonstration project.  In a pair of symposium posts, Madeleine Ball and Misha Angrist stress that the possibility of individual participant identification from PGP data is explained thoroughly in the project’s informed consent form, pre-enrollment study guide, and ongoing correspondence with participants.  Their advice to anyone in the PGP with residual concerns about being identifiable? To refrain from sharing ‘sensitive’ data with the PGP, or to withdraw what data they can from the protocol altogether.

On the surface, these suggestions make complete sense and are consistent with the PGP’s fidelity to the principles of veracity and respect for autonomy.  Yet their bottom line makes me uncomfortable.  It reminds me of a recent meeting I attended where Johns Hopkins bioethicist Jeffrey Kahn spoke to a group of communications researchers about the ethical issues raised by using Twitter API and other internet data in public health research.   Kahn’s suggestion that mining ‘anonymous’ Twitter data (which is stamped by time and location) for health-relevant content could be upsetting or even harmful to some Twitter users was met with a common rebuttal, loosely paraphrased as follows:  “If they don’t want it used, they shouldn’t have put it out there.”

To me, this sounded like the research ethics equivalent of being told I deserve to be catcalled for wearing a skirt in the street.

Obviously, the PGP is not trying to be the street, nor is it trying to be Twitter.  Given the PGP’s specific ethos and aims, some might argue that adopting a “we told you so” approach to informed consent is sufficient to advance the project’s research aims (though I suspect not, given my wholehearted faith in the PGP’s commitment to collecting reliable phenotype data and recruiting diverse participants, not to mention departing from the status quo in research ethics.)  To its credit, the PGP has welcomed the response to Sweeney’s re-identification demonstration as a teaching moment and is soliciting feedback about how to improve its communication with participants.  The PGP’s humility moves me to consider: What are the rest of us taking for granted about research participants’ long-term views regarding secondary uses of their personal data – ‘identifiable’ or otherwise?

In her own re-identification symposium post, Meyer highlights a number of concerns I share (in case I butcher them in what follows, I encourage readers to refer directly to her original words.)  Responding to Angrist’s question about why she remains in the PGP despite misgivings over Sweeney’s findings, Meyer draws an important distinction between a) assuming the risk of individual re-identification to advance biomedical research (which she authorized) and b) providing consent for third parties to use her data with the explicit goal of determining her identity (which she did not).  At the core of Meyer’s qualm is that “choosing to share personal information when asked is different than having that information taken from you without your permission or even knowledge” [emphasis mine].  Her point is that we shouldn’t have to choose ‘both’ or ‘neither’ to participate in genomic research.

The irony of this debate is that the PGP leadership has asked its discontents to withdraw data from the protocol to mitigate their concerns over the risks of being re-identified, when the breech Meyer refers to is one of trust and shared understanding about the purposes of donating her data to research.  Aren’t trust and understanding the very dimensions of the research-participant relationship the PGP seeks to preserve with its veracious approach to informed consent?  If so, this is a critical lesson for any of us involved in biomedical research at a time of impending (we think) regulatory reform.  If such misunderstandings can surface in a cohort of scientifically literate and motivated “genomic altruists” despite a rigorous informed consent process, what does this presage for other, less thoughtful research projects in an era of genomic identifiability?  It would suggest that reforming U.S. research ethics regulations to encourage the use of more ‘open’ informed consent protocols administered at a single time point would be insufficient to respect autonomy and voluntariness in research participation.  At best.

As a member of the ethics team for Genetic Alliance’s new Registry for All Diseases [Reg4All] I follow events like these with interest and concern.   Reg4All is committed to building an inclusive, accessible research repository while honoring heterogeneous privacy preferences and facilitating participants’ control over aspects of data-sharing that matter to them.  Like the PGP, Reg4All will evolve in response to the engagement and feedback of research participants.   In order to listen to them, we must know who they are.  But once we do know, we must REALLY listen.

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Guest Post: Breaking the Glass Ceiling

By HEATHER HAMPEL and DAWN LANEY

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Do you hear that sound?  It is the sound of hundreds of genetic counselors bumping their heads into the glass ceiling that our Master’s degrees can cause, particularly in academia.

For Heather, her first experience with this occurred within 2 years of graduating when she was working on a research study in colon cancer genetics.  Their collaborator did not believe she should be listed as a co-author simply because she did not have an MD or PhD.  Her boss fought for her and she got the authorship she had earned, but their collaborator’s genetic counselor was listed only in the Acknowledgements section despite her contributions to the study.

For Dawn, the thump against the glass ceiling occurred again recently when she received an email notification from a large, NIH funded, genetic disease network announcing that student trainee travel awards were being granted to their annual meeting.  Dawn wanted her genetic counseling fellow and first year genetic counseling student to attend this meeting, as they were working on relevant projects.  Sadly, a follow-up email arrived…only PhD, MD, PharmD, or other doctorate program students would qualify for travel awards.

We are genetic counselors.  That is all we ever wanted to be.  But over time, after many bumps against the ceiling, it has become clear that sometimes our Master’s degrees are holding us back.  We both considered PhD programs early on, however, we would have had to get one in a field other than genetic counseling in which we were not really interested.  Later, after having kids, buying homes, and working 40-60 hours/week, we simply could not cut down on hours or move our families in order to obtain a PhD in genetic counseling at one of the very few institutions that offer this degree.

So, it was a major transformational event when we attended an Educational Breakout Session on the Clinical Doctorate at the 2009 AEC.  Until then, we had not noticed the revolution quietly going on around us as other allied health professions were either converting to an entry-level Clinical Doctorate or adding an advanced degree Clinical Doctorate option.  This includes pharmacists (PharmD), physical therapists (DPT), audiologists (AudD), nursing (DNP), psychology (PsyD), and occupational therapists (OTD).  In fact, to our knowledge, the only allied medical profession that considered a Clinical Doctorate and decided against it are physician assistants, mainly since “both physicians and PAs practice in the domain of medicine; therefore, the entry-level doctorate for the practice of medicine is the MD or DO.”  Some of the potential pros for a Clinical Doctorate include:

  • Opportunities to advance career progression or career ladders – Of note, only 35% of genetic counselors reported being satisfied with their advancement opportunities in the 2012 National Society of Genetic Counselors Professional Status Survey,
  • Ability to obtain faculty appointments,
  • Ability to apply for grant funding
  • Ability to serve as the PI on an IRB-approved protocol
  • Increased status in the health care team
  • Address new developments – expanded knowledge base in rapidly progressing field
  • Gain ability to advance knowledge and skills in clinical practice and health care delivery

So, why not a Clinical Doctorate in Genetic Counseling – a DGC?  A specially designed, genetic counseling specific degree created for practicing genetic counselors to expand their medical and clinical research skills.  Imagine the possibility of obtaining a Clinical Doctorate through on-line, distance learning programs that can be taken in the evenings and on weekends from anywhere in the world.  Imagine getting credit toward the degree for the cases you have seen in your own practice.  Imagine courses directed at clinical-translational research.  To us, this option seems so much more accessible, affordable, and possible to do while working full-time.  We became convinced.

Originally, we thought that maybe genetic counselors should convert to an entry-level Clinical Doctorate so that we did not create a two-tiered system where some counselors had an MS and others had a DGC (To directly download a .pdf  that clarifies the distinction between entry level and advanced degree Clinical Doctorates published by the Association of Schools of Allied Health Professions, go to: http://www.asahp.org/docs/ASAHP%20re%20Clinical%20Doctorates.doc).  However, it has become clear that this would be problematic at present as some programs might have to close causing a reduction in the number of genetic counselors being trained.  In addition, it could potentially hinder licensure and reimbursement efforts.  We understand and appreciate this concern.  The last thing we want to see is a decrease in practicing genetic counselors, especially during a time when there is a great demand and need for our services.

However, this still leaves the open the possibility of the advanced degree Clinical Doctorate where those who wish to pursue the degree could do so. Just to be clear, we are not advocating for an advanced degree Clinical Doctorate instead of a PhD in genetic counseling – we are advocating for it, in addition to the PhD in genetic counseling.  We believe that there is need for both degrees as they serve different purposes and should be complementary as is the case in the nursing profession and psychology.  As to our prior concerns about a two-tiered system, we realize now that this already exists as some genetic counselors have PhDs and others do not.  In fact, this option seems to allow the most flexibility since counselors who do not want or need an advanced degree such as a Clinical Doctorate, would not need to obtain one.

So, what is the problem?  Well, it seems to us that the advanced degree Clinical Doctorate option is getting lumped in with the entry-level Clinical Doctorate and not being given due consideration.  In the survey from the Genetic Counseling Advanced Degree Task Force to the membership last month, it was difficult to respond if you support advanced degrees for genetic counselors.  The motion stated:

“A. Maintain the current standard – master’s as the sole entry-level degree/terminal degree; or

B. Move toward an entry-level clinical doctorate with elimination of the entry-level master’s degree.”

The use of the word “terminal” in option A seems to imply that there would be no opportunity for advanced degree options such as the Clinical Doctorate or PhD.  As a result, those supporting advanced degrees may have felt compelled to answer this item “B” even though they do support an entry-level Master’s degree, or to not answer at all.  In addition, the plenary session at the 2012 AEC was really focused on the entry-level CD and did not include much information about the option or impact of an advanced degree CD on the profession.

Afraid that the advanced degree Clinical Doctorate option was not being given enough consideration and that those of us who support it could not adequately convey our opinion to the Genetic Counseling Advanced Degree Task Force (GCADT) before they vote on this topic later this month, a small group of us designed a petition to offer those interested an opportunity to express their opinion:

https://www.change.org/petitions/support-an-advanced-degree-clinical-doctorate-for-genetic-counseling

Why a petition?  It seemed like the easiest way to obtain multiple signatures on a single document and much more considerate to the GCADT than an individual letter writing campaign which would have caused a barrage of e-mails or letters to members of the GCADT.  As of today, 129 individuals have signed the petition and the number continues to grow as the petition gets passed along informally from one genetic counselor to the next.  There have been many lovely responses but we’d like to share this one from a former genetic counselor in Australia:

After completing my masters at UCHSC I worked in Canada for 7 years then wanted to further my knowledge and skills. There were no advanced GC programs so instead I quit genetic counselling and returned to school to study medicine. Now a doctor, I miss genetics but will likely not return to it.

And so, as we close, we hope that the clinical doctorate, as an advanced degree, stays on the table in future discussions about advanced training for genetic counselors.  We also hope we begin to hear a new sound – the sound of us tap, tap, tapping away, trying our best to break that glass ceiling.

Heather Hampel, MS, CGC is the Associate Director of the Division of Human Genetics and Professor in the Department of Internal Medicine at The Ohio State University Comprehensive Cancer Center.  She is a former member of the Board of Directors of NSGC (Region IV Representative in 2003-4) and of ABGC (2007-2011) where she served as President in 2009 and 2010.  She received the Region IV Leadership Award from NSGC in 2006.  She works in cancer genetics and her research interests involve universal screening for Lynch syndrome.  She and Dawn Laney just met in 2012 due to their shared interest in an advanced degree Clinical Doctorate option for genetic counselors.

Dawn Laney, MS, CGC, CCRC is the Lysosomal Storage Disease Program Leader and an Instructor in the Emory University Department of Human Genetics.  She is an active member and past co-chair of the NSGC metabolic and lysosomal SIG.  Dawn has just joined the research SIG and thoroughly enjoyed attending the meeting at NSGC.  In her work life, Dawn specializes in clinical research and the lysosomal storage diseases.  She loves being a genetic counselor and finds that is entirely consistent with her long-term thirst for knowledge.  In the usual “one degree of separation” genetic counselor way, Dawn has enjoyed meeting and discussion advancement opportunities with Heather Hampel and all the other GCs pondering the topic.

Also, see a previous DNA Exchange posting about the clinical doctorate in genetic counseling.

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Guest Post: Information Detoxification

By KATIE STOLL
Katie Stoll is a genetic counselor in Washington State. She graduated from the Brandeis University training program in 2003 and since that time has held positions in the areas of prenatal, pediatric and cancer genetics.
 

I did not have a vision of motherhood from a young age. In fact, I don’t think I really even considered the idea of having kids until some unexpected biological switch flipped in me. Do you remember that scene in the 2009 Disney Pixar film, Up when Ellie and Carl are watching the clouds roll by and suddenly they all start to resemble babies? That is the way I remember feeling. It was as if out of the blue, having a baby was all I could think about.

Although this need to have a baby seemed to come from some emotional and primitive place, I wanted to be organized about my approach. I scheduled a “preconception” appointment and asked my husband about his thoughts on genetic screening. As a genetic counselor working in a prenatal setting, testing guidelines were imbedded in my mind – and I knew very well what testing options should be available to me. My husband thoughtfully asked, “If we are both carriers for cystic fibrosis or something else, does that mean that we are not going to have a baby?”

Whoa. What would we do if were both carriers??

While I am incredibly grateful that my husband was insightful enough to have asked this question, it is humbling for me to admit that it was him and not me who brought this to the table. After all, isn’t this genetic counseling 101? I realize now that while I had considered this question hypothetically many times previously, without the vision of parenthood, I did not appreciate its magnitude.

What followed were many conversations about how we felt about assisted reproductive technology and prenatal diagnosis.  We tried to imagine what it would be like to have a baby with a genetic condition or disability. What it would be like not to have a baby. These conversations were pivotal for me both personally and professionally. It was then that I truly began to realize the tremendous and complex affect these once seemingly “simple tests” may have.

Professional guidelines regarding prenatal/preconception screening emphasize the importance of informed and autonomous decision making . The listed critical components of the informed consent process often focus on statistical risks and the clinical details of the condition being screened for. Underemphasized is the importance of consideration of what this testing will mean for the individual or couple. How might a positive test affect their hopes and dreams?  How might it change their path in pregnancy?

When an individual would use results to facilitate reproductive decisions, testing can be empowering. What is sometimes overlooked in our well-intentioned goals to provide patients with knowledge however, is the potential harm and disempowerment that may result when testing information is not desired.

Currently a minority of our patients will have an abnormal test result but we must remember that the emotional impact for those individuals can be life changing. I have known many who meet abnormal or unclear results with guilt, fear and confusion.

The term “toxic knowledge” has been used to describe genetic information that individuals may regret learning, following a prenatal genetic test (Bernhardt 2012). With the flood of new testing options, I am concerned about the potential increase of toxic knowledge and how this will play out in people’s lives. How will it change the pregnancy experience?  The relationship between parent and child? The way people view themselves?

I know very well the comfort and safety that can be found in the scientific facts, procedures, clinical prognosis and statistics.  There is so much information that is important for us to convey. I write to encourage you to go a step beyond that information and to delve into the heart of what this testing may be about for the person sitting in front of you. That person may be a patient you are seeing for the very first time – it may be your spouse, your child or a dear friend.  It can be incredibly challenging to sit with someone and help them see how testing may impact their path in life, especially if that path seems very different from one you would take yourself. However, profound satisfaction may result through using your skills to support someone as they find their own way. What drew me initially to this field was a love of the science and my desire to share my knowledge with others. Although I still love this aspect of genetic counseling, what I now find most gratifying is working to advocate for the needs, hopes and dreams of the people I work with.

I imagine we have all had some personal experiences that have altered the way we practice as genetic counselors. I would love to hear your experiences and any thoughts you may have about toxic knowledge.

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Guest Post: YouTube It!

BY JUSTIN LORENTZ

Justin Lorentz is a genetic counselling student completing his second and final year of his MSc at McGill University. Before entering the world of genetic counselling he studied at the University of Waterloo and in 2010 graduated with a BSc in Molecular Biology and Biotechnology. He is a member of both the NSGC and CAGC and has been actively involved in Genetic Counselling Awareness Week since its infancy. Justin manages a Twitter account under geneharbinger which is dedicated to the field of medical genetics and genomics.

As a genetic counselling student it can be tough trying to stay on top of the seemingly exponential learning curve that marks our graduate program. In an attempt to ride this curve I find myself processing and digesting a lot of information about genetic conditions. The strategy I use to make sure this information is absorbed and retained is somewhat multidimensional in that I gather different forms of media to learn the same thing. For example I may look at Wikipedia (you do it too), I read through books, I browse through the literature, print off pictures on Google images, and I have even been known to listen to podcasts.

One day during class, the disorders under the umbrella of Limb Girdle Muscular Dystrophy (LGMD) came up and our lecturer mentioned how a patient’s gait, among many other things, can act as a clue in making a diagnosis. The lecturer was not willing to demonstrate a gait characteristic of someone with LGMD and, after mentally sifting through my usual research schema; I realized I would need to get creative if I was going to actually see this gait.

That night I went home and I typed “Limb Girdle Muscular Dystrophy” into the YouTube search bar and to my surprise I got plenty of results. The main contributor was a user named John71377 AKA John Graybill, a 34 year-old man who has LGMD type 2A. When I visited his YouTube channel here my interest was in his gait, but after watching the first 30 seconds of a video I didn’t care about that anymore. John showed me a little about his life that I would never see in a clinic or read in a textbook. As I sifted through over 30 videos of him demonstrating how he gets out of bed, goes up and down stairs, and how he stands up from a seat, I realized I would never forget about LGMD. To this day I see John when I think of this condition.

John Graybill’s YouTube channel. The current video is a demonstration and description of how John walks. On the left are his other videos that include demonstrations of how John get goes up and down stairs, rises from the ground, etc.

Comments posted in response to one of John Graybill’s videos.

I quickly realized that John’s goal in making his videos was not to show genetic counselling students how he walks; instead it was to help other people with muscular dystrophies like LGMD by sharing tips and advice about how he has overcome his limitations. In addition to his videos he advertises his website he created to raise awareness about LGMD, particularly type 2A. After looking at the comments on his channel, and then watching him on a PBS special I am confident he has been successful.

After “meeting” John, I wanted to see if there were other people who have shared their life with a genetic condition on YouTube. In a matter of seconds I “met” Jim who has myotonia congenita. He posted this video with the intention of educating the public about his condition. He shows how his body reacts when he moves rapidly and he explains how he can overcome the limitations of his condition through stretching. Then I “met” Elliot Adler, a 10 year old boy who has Charcot-Marie Tooth (CMT). With the help of his mom, he created this video raising awareness for CMT. He says that the more people who know about his feet means the better the chances of finding a cure.

Although the intentions of these videos are different, I saw similarities when I looked at the comments written about them. From what I have seen, there have always been comments from other YouTube members who could personally relate to the videos because they had a friend or relative with the same condition or because they have it themselves. Almost every comment provided support, and sometimes members would even network and share email addresses.

It is important to note that the people watching these videos are not just those who can personally relate to them. Furthermore, it is not just people with genetic conditions that are making these videos. Patient organizations such as the Canadian SADS Foundation have harnessed the power of YouTube and create videos like this one to educate the general population, spread awareness, and raise money for research.

YouTube is being used everyday as an educational tool for patient organizations, for patients with genetic conditions, and for the occasional medical genetics practitioner. It might be time for the genetic counselling community to begin thinking about whether there is a place for YouTube in their practice. YouTube videos made by organizations pose many of the same benefits and limitations as websites made by organizations. Personal YouTube videos in many ways are like personal websites, and similar disclaimers may apply if they were ever to come up in a session. But like how reading a book provides a different experience than watching a movie; viewing a website on LGMD will provide an experience that cannot be compared to seeing someone with LGMD move through their house. YouTube can be a powerful resource in this field (for better or for worse).

What information does YouTube have on your field of genetic counselling? It might be good to check it out. I bet some of your patients have done just that already.

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