Category Archives: Guest Blogger

by | May 13, 2010 · 7:20 AM

Guest Post: The Counselor Intimidated: A Professional and Personal Experience with Genetic Counseling

By Aimee Tucker Williams

Aimee Tucker Williams is a board certified genetic counselor.  She spent 8 years as an Assistant Professor at The University of Texas Medical School at Houston and was a major contributor to their Genetic Counseling Program prior to a geographically forced retirement.  Aimee is now a Professor of All Things Mom to her daughters, ages 4 and 2, and once again lives in Houston.

______________________

I remember my first abnormality as a genetic counseling student.  It was a routine AMA case that I hadn’t put much thought into….because by then I had done about 20 AMA sessions and aren’t they all the same?  The woman was 38 years old and had the kind of shrewd and steely exterior of many of the patients I encountered in my briefly adopted home of Chicago.  I didn’t have any sort of empathetic connection with her and frankly, she intimidated me, so I happily went on my way post-session, warm in the knowledge that I would never see this person again.  Well, as seems to happen more often than not, the patient that intimidated me became the patient that was carrying a pregnancy diagnosed with Trisomy 18.  She was the patient that I would have to call and inform of this news, the first patient that I would have to counsel and console.

I was petrified.  After a number of failed attempts to complete the phone call, I forced myself to dial her home number and prayed that she wouldn’t pick up the phone.  She did.  I stammered my way through the initial disclosure of information. While I don’t remember the words I used to convey the news, I remember their seeming pitifully inadequate for the situation at hand.  And while I barely remember my further interactions with this patient, I know that I counseled her regarding the diagnosis, potential outcomes and options.  What I do remember is that although I felt some compassion for this person and what she was going through, I felt very little empathy.  I watched her leave the session thinking, “thank goodness that is over for me.”  My fear of this woman prevented me from giving her what she needed, and although I knew that and regretted it at the time, my concerns were centered more strongly upon my own personal relief.

Flash forward 10 years later. I am pregnant with my second child and will be AMA at delivery.  My family and I are living in Brazil at the time, where abortion is illegal and amniocentesis is not routinely offered to anyone under the age of 38.  My ob/gyn is reluctant to schedule me for an amniocentesis despite my urging and so, I take matters into my own hands and schedule myself for genetic counseling and a CVS during a serendipitously planned trip to the U.S.  I am frankly excited to go through the entire process, and while my husband’s knowledge of genetics has been extensively developed by osmosis after years of hanging out with counselors and their spouses, he still deserves to get the whole “spiel” prior to testing.

While you could never call me steely and I can only use the word shrewd to describe myself in relationship to bargain hunting, I strangely found myself in the shoes of my first abnormality patient that day.  Apparently the counselor who had been given our chart that morning had not been informed that I was a colleague.  The counselor (who I will call “C”) was a recent graduate and did a wonderful job of giving us the pertinent genetic information; but I could sense that “C” was intimidated by me as I was by my patient years ago.  I could practically hear “C” breathe a sigh of relief as we left the office, thankful that that session was over.  Unfortunately for my husband and me, our genetic experience was not destined to be over.  About a half an hour later, we found ourselves in a darkened ultrasound room quickly, and dare I say, shrewdly, making the decision to terminate a much wanted pregnancy.  The baby had a lethal birth defect and we knew, as we had always known, that we would not continue a pregnancy in that situation.  The MFM did his best to help us coordinate a termination during our short visit, and when he couldn’t, we asked to be shown to a room where we could make some phone calls and arrange for a termination in Houston, our next stop in our US visit.

The first person I spoke to after being shown into a consultation room was a genetic counselor.  I called my colleague and friend in Houston and, for the first time since being given the heartbreaking news, cried out my pain and disappointment over our loss.  She and others arranged for our termination procedure later that week and supported me as friends and genetic counselors do.  I never saw our genetic counselor again.  I don’t know why “C” never came to see us.  It could be that the MFM felt we had already been served as we had made our decision regarding termination and “C” agreed.  It could be that “C” was never told about the abnormality.  Or, as I fear, it could be that “C” was so intimidated by counseling someone more experienced than themselves, that we were left alone with the rationalization that I clearly had the bulk of the information I needed to handle this situation.

The thing is…we didn’t have the bulk of the information. At that moment, all we had was grief.  All we had was sadness, followed by numbness, followed by the surreal experience of being pregnant with a baby that in a few days time would be removed from my body because of the results of a half-hour ultrasound procedure.  I spent the next few days visiting with family and friends, taking my husband and daughter sightseeing and suffering from continued morning sickness, all the while reminding myself that I was no longer pregnant with a baby we were going to have.  We went through the gamut of emotions and experiences I had only heard or read about in my 10-plus years of experience, and likely had some unique experiences as well.  But, we never had anyone sit us down and lay all of the genetic information that went along with our baby’s diagnosis.

A week later, after all had been said and done, it finally occurred to me to do research on the Internet regarding the diagnosis we had been given.  I was mortified to realize that the anomaly, which I had immediately assumed to be of multifactorial inheritance, could be suspected in both an autosomal recessive condition and in a sporadic one with a fairly decent recurrence risk due to gonadal mosaicism.  My first reaction to this news was anger at myself; why hadn’t I thought of these possibilities!  My second reaction was fear for our future; would we want to attempt another pregnancy unarmed, so to speak?  My third reaction was anger at the MFM; why didn’t he continue the scan to the best of his abilities, ruling out any further abnormalities that may signal a condition with a sizeable recurrence risk?  To this day, I have never been angry at the genetic counselor.  Should I have been?

No, I can’t be angry at “C”; if I were, I would have to be angry at myself for past sessions where I was the “counselor intimidated.”  What I can hopefully be is helpful, by reminding my colleagues that even the intimidating patients can benefit from the most basic of counseling strategies. Simply walking into the room and telling the patient that you are truly sorry for the situation they are facing is more beneficial than you realize.  Every patient will do what they will with this statement…some may say thanks and shut you out, some may cry inconsolably, some will ask you to stay and support them.  The point is, you were there for them in whatever capacity they required and this is nothing for you to fear.  Speaking from a more logistical (and legal) standpoint, remembering that you are responsible for giving every patient the genetic information they need in a way that they can hear it is key.  Ultimately, you are responsible for recurrence risks and you must find a way to get that information across.  I can guarantee you that in a matter of a couple days, weeks or months, that patient is going to wake up one morning and say to herself, “Could this happen again?”  Lastly, you must never assume a thing about your patient’s needs.  You could have a Nobel Prize winning geneticist sitting in front of you, and they will still require you to lay out their pertinent genetic information in a manner appropriate to their situation; you may someday counsel a vocal pro-life politician who would consider termination if placed in the position we were in.  You just never know what to expect.

We are fortunate to be in, and constantly challenged by, a field that gives us a unique opportunity to help hapless individuals, such as myself, navigate the unexpected. But the unexpected can do crazy things to us and to our patients.  While the points I raise above sound fairly simple, they can sometimes be forgotten when confronted by a patient who pushes our own personal “fear” buttons.  I was that patient, and I have to say that the fear I felt while sitting in that ultrasound room was monumentally greater than any fear I ever felt as a counselor.  Hopefully our story will help you to keep this in mind during your practice.

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by | March 16, 2010 · 8:15 PM

Guest Post: Putting GC into DTC

Jill Davies is a Genetic Counsellor and the Director of Genetics at the Medcan Clinic, Canada’s leading preventive health care clinic. She has over 10 years of experience in genetic counseling and has worked in partnership with Dr. Lea Velsher (medical geneticist) to develop a preventive genetic service at Medcan.  Read her full bio here.

We’ve spent a lot of time discussing why DTC genetic testing shouldn’t be available, but I think we’re beginning to come to terms with the fact that consumer genetic testing is here to stay.  Rather than criticize, why don’t we look at embracing the technology and building a framework around how it can work?

For the past 4 years, I have worked at a private medical clinic in Canada .  More specifically, I have worked at a preventive healthcare clinic, where we focus not on health care as an expense, but as an investment.   Believe it or not, there is a large market for preventive health care. This growing area of medicine aims to focus on detecting disease early, when there is opportunity for treatment and improved outcomes.  A large part of this concept is health education, of which genetics education – understanding how genetic factors play a role in overall risk for disease – is often overlooked.

Family history is of course an important component of understanding one’s potential genetic risk and this is still the best place to begin any genetic assessment.  When I started at Medcan more than four years ago, my job was to meet with people as part of their annual medical and help them to understand their genetic risk based on family history.  The vast majority of conditions that people were concerned about were complex diseases, like cancer, heart disease and Alzheimer’s.  Conditions where I might rarely see an indication of inherited risk, but most often spent my time counseling around risk factors for common diseases.  Although I knew the information we were providing was important, only a portion of clients found value in this genetics education piece.  Many others found the information to be lacking – they wanted something more tangible.  They wanted genetic testing.

About a year ago, we started having discussions with Navigenics, a company who employs genetic counselors and who’s SNP panel is carefully vetted by a large team of scientists and geneticists.  Yes, I spent some time researching the other DTC companies, but it quickly became clear to me as a genetic counselor that only one company had figured out the right formula – as their slogan says “There’s DNA, and then there’s what you do with it”.  For those of you who haven’t had the opportunity to see a full Navigenics patient report, I encourage you to try to get your hands on one – its good!

We took a look at this report and thought “how can we build on this?”  As we’ve already established, there is clearly a market for preventive health and my experience was definitely telling me that people wanted more than just a family history review.  So why not combine family history, with personal genome testing technology?  Better yet, why not offer pre- and post-test genetic counseling sessions too?  This way, individuals have the opportunity to learn about the test in advance (risks, benefits, limitations, insurance issues) and also have a qualified professional to walk through the results and help interpret those results in the context of the family and medical history.

The biggest complaint about DTC testing to date has been the lack of qualified professionals to help individuals understand what the information means.  Although there are still limitations to our understanding of the clinical application, I don’t think we give consumers enough credit in their understanding of probability and risk stratification.  And I don’t think we give ourselves enough credit in our ability to counsel around these complex issues.  We’ve been doing it for years.  This is just a new framework in which to use our skills.

The uptake of our service has been very successful with our clients.  I’ll be the first to point out that we have a fairly unique patient population – high income earners who are already interested in proactively managing their health.  Anecdotal trends so far though indicate a low level of anxiety and a high degree of satisfaction with our program.  A program which allows the technology provided in a DTC test to be made available in the framework of genetics “best practice.”

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by | February 19, 2010 · 7:59 AM

Guest Post: Letter to the Editor, CNN

Suzanna Schott has been a prenatal and pediatric outreach genetic counselor in New Mexico for the last 4 years.  She was trained at JHU-NHGRI, and prior to that was a graphic designer in Atlanta, Georgia, her home town.  She is interested in representations of genetics in the media, and is a frequent writer of letters to the editor.

Ms. Elizabeth Cohen

Senior Medical Correspondent

CNN

Dear Ms. Cohen,

As a genetic counselor, it is my job to advocate for patients and families, help them interpret complex scientific information, consider the personal and ethical implications of genetic testing, and facilitate difficult medical decision-making.  I therefore appreciate your efforts to raise awareness of public health genetic screening practices and potential concerns about privacy and misuse (Elizabeth Cohen, “The government has your baby’s DNA,” cnn.com February 4, 2010.)  However, I was very concerned to see serious misinformation in your report about the nature of the screening and the potential risks involved.

I agree that parents have legitimate concerns about consent, privacy and potential misuse of testing samples.  Unfortunately, your report provided very few facts or evidence relevant to whether privacy violations and surreptitious testing have actually occurred.  Instead, your story sensationalized unrelated and unfounded concerns, which I am afraid will unduly influence families to avoid a test that can actually save lives.  Indeed, based on the online public comments, your article has left many readers ready to believe that every aspect of newborn screening is an illicit and irresponsible ploy by the government.  I must take issue with three assumptions in your report that I think led to these misunderstandings.

First, you suggest that newborn screening will identify children with diseases that would not otherwise be diagnosed, putting a permanent blemish in the medical record that could have been avoided.  Unfortunately, the fact is that the conditions detected on the newborn screen are typically so severe that even without newborn screening, an affected child would eventually require significant medical treatment resulting in the diagnosis in the medical record.  The problem with delaying diagnosis until symptoms appear is that it is often too late at that point for medical intervention to make a real difference. Babies with these conditions may appear healthy and normal at birth, while irreversible damage is silently occurring in the brain and other organs.

The second assumption that you make is that identification of these diseases puts children at risk for insurance or employment discrimination.  While genetic discrimination is a theoretical risk, I believe that your report grossly exaggerates this possibility.  Again, a diagnosis based on newborn screening is no more likely to result in discrimination than a diagnosis based on symptoms.  It is true that newborn screening can sometimes identify individuals who only carry a genetic difference associated with a disease, but are not affected with a disease.  Genetic carrier status has no effect on an individual’s long-term health and does not require treatment.  Therefore, carrier status does not cost an individual’s insurance company anything.  Nor does carrier status create any disability that would affect one’s performance at work.  Therefore the risk of insurance discrimination is very low, and in fact, actual cases of discrimination based on genetic testing results are very few and far between.

Nevertheless, there is a federal law called the Genetic Information Non-Discrimination Act (GINA) which prohibits health insurance and employment discrimination based on genetic information, and which your report entirely neglected to mention.  While there are limits to the protections provided by the law (see http://www.genome.gov/24519851 and http://www.dnapolicy.org/), GINA was specifically written to allow families to feel less afraid of having medically necessary genetic testing.  In addition, another federal law called the Health Insurance Portability and Accountability Act (HIPAA) provides strict controls on the types of medical information that can be shared with non-health care providers, including information related to newborn screening and residual samples.  If a parent truly feels that their child’s medical privacy rights have been violated by newborn screening protocols, there are outlets for reporting that (see http://www.hipaa.ihs.gov/index.cfm?module=faq).

Finally, the third concern I have with your report is the suggestion that the government will surreptitiously begin adding tests to the newborn screening for common conditions like mental illness or diabetes.  Again, in my opinion, your report greatly exaggerates this risk.  Many of us are frightened of science-fiction scenarios in which babies are genetically labeled and sorted.  However, the goal of newborn screening is early treatment, not eradication of genetic traits or labeling of adult onset disease.  Your readers may be relieved to know that there are very stringent criteria for inclusion of a condition on newborn screening panels.  Committees of medical and ethical experts have carefully considered how common a disease is, how severe it is, and whether early diagnosis and treatment will make any difference before including a condition on the test panel.  Your readers should know that much of the movement to implement newborn screening did not come from government bureaucrats, but from families who have witnessed first hand the difference that newborn screening can make.

Certainly, as a society we should be debating the uses of genetic technology, including what conditions are included on testing panels, who gets to decide, who has access to our genetic information and how is it used.  I also concede that we health care providers can be doing a better job to make sure parents fully understand newborn screening, ahead of time, and have the opportunity to opt out of both testing and storage of DNA.  But make no mistake, newborn screening has saved lives, reduced suffering, and contributed to genetic and public health research.  I believe that most thoughtful parents, armed with balanced and complete information, would agree that the benefits of newborn screening far outweigh the risks, to both their children and the community at large.

Your report would have been less alarming and more informative for your audience if it had included more facts and less speculation.  For future stories on genetics, I encourage you to utilize the professionals in the American College of Medical Genetics (see http://www.acmg.net) and the National Society of Genetic Counselors (see http://www.nsgc.org) to both deepen and broaden your discussion of the issues.

Sincerely,

Suzanna Schott, ScM-LCGC

Licensed Certified Genetic Counselor

Albuquerque, New Mexico


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by | September 15, 2009 · 6:40 AM

Guest Post: Female Buyer Beware

By Lola Cook

Lola Cook, a board-certified genetic counselor, currently works as a prenatal genetic counselor at a private hospital in Indianapolis. Previously, she worked in pediatric and adult genetics for 11 years at Indiana University Medical Center. She is the Project Director of a Maternal-Fetal Medicine and Genetics Maternal Child Health grant funded by the Indiana State Department of Health.

This past week, I was skimming my Journal of Genetic Counseling when my attention was drawn to the article by Tamara Somers and her co-authors about women’s interest in cancer genetic services, even when they do not have a significant family history. Part of the interest seemed related to their cancer distress. I am not surprised, for it mirrors my own level of interest or, should I say truthfully, anxiety about breast cancer. Added to my background worry, is the fact that my colleague who is the same age as I, in her 40’s, was recently diagnosed with stage III breast cancer following a normal screening Myriad BRAC Admammogram a year before and a limited family history. And then there are the new Myriad direct-consumer ads about BRCA gene testing finding their way into our own homes!

The National Cancer Institute estimates that currently the lifetime risk for a woman to develop breast cancer is 12.7%, which translates into 1 out of 8 women.  They go on to state:

“These probabilities are averages for the whole population. An individual woman’s breast cancer risk may be higher or lower, depending on a number of factors, including her family history, reproductive history, race/ethnicity, and other factors that are not yet fully understood.”

To be honest, it blows my mind that not more is done to offer and provide breast cancer risk assessment to women when you consider the background risk and so many mitigating factors. In addition, some of us are worriers, and not necessarily objective ones.

I was lucky (or just a worrier with resources). I knew to call the cancer genetic counselor where I work, when my cancer distress was increasing.  She suggested a general breast cancer risk assessment clinic in our hospital, not the cancer genetics clinic, since I did not “qualify” with my mere late-onset breast cancer mother. It took a few contortions to get into this clinic for breast cancer risk assessment, and then it was found I qualified for yearly MRI breast examinations based on my personal and family histories. I was high risk. In fact, the radiologist reluctantly admitted after my mammogram this year “that with your dense tissue, the detection rate of the mammogram is probably a little better than 60%. It’s good you are having an MRI”. How many years had I obediently done my annual mammogram with no specifics provided or context given to the results, just assuming I was in the clear zone? Those of us interested and yes, even anxious, can not assume basic and individualized breast cancer risk assessments and/or referrals will happen during our 15-minute primary doctors’ visits or even by our local breast centers!

As a genetic counselor and as a female, I suggest that we get the word out to our friends, families, and patients with limited family history about the option of breast cancer risk assessment in a formal setting, whether it is like the clinic I attended or a specialty genetics clinic. As health care providers, the more difficult task is to figure out how to make breast cancer risk assessment services more readily accessible to all women. At a time when we are faced with direct consumer ads in our own living rooms, women can not be fooled that screening and testing are enough. Cancer risk assessment services can do much to adjust risk perceptions, reduce anxiety, plan truly useful and individualized screening and testing protocols, and coordinate care. Based on this small study, we know the likely response, if we just take the time to ask and refer.

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by | July 2, 2009 · 7:34 AM

Guest Post: Gene Patents- Why should genetic counselors care?

By Ellen T. Matloff

Ellen T. Matloff, M.S. received a Bachelor of Science degree cum laude from Union College, and a Master’s in Genetic Counseling from Northwestern University. Ms. Matloff currently serves as the Director of Cancer Genetic Counseling at Yale Cancer Center in New Haven, Connecticut and previously worked at SUNY Health Sciences Center in Syracuse, NY. She is board certified by the American Board of Genetic Counseling and is a member of the National Society of Genetic Counselors, the American Society of Human Genetics and the American Society of Clinical Oncology.

Should we, as genetic counselors, care about gene patents?

We have plenty of other things to worry about: patient care, publication pressures, administrative responsibilities, growing caseloads, shrinking health care budgets (I could go on, but why raise our collective blood pressure?) — so why, oh why, would we add gene patents to this list?

Because gene patents have a major impact on many things that affect our practice. This includes, but is not limited to:

  • Cost of genetic testing, which influences: Patient access and insurability
  • Market competition, or lack thereof, which affects: Cost (see above), our ability as practitioners (or as a Society) to drive change within commercial genetic laboratories regarding issues such as price setting, marketing, advertising, turnaround time, reporting mechanisms, etc.
  • Clinical research, clinical research, clinical research. It is pretty hard to enroll patients in a study with an extra $3000 price tag per subject. Even a small study of 100 patients would cost more than $300,000 in genetic testing costs alone if patients were to receive their genetic testing results. And as those of us who have written grants know all too well, 100 subjects is a small ‘n’ and $300k is a huge chunk of most available grants.

In short, a strictly enforced patent creates a monopoly. Our patients need a test, we have to order it from one company, and they hold all of the cards. Lump it or leave it.

In the case of BRCA1 and BRCA2 testing, the cost of testing was $1600 in private laboratories in 1997. Twelve years later with the advent of more efficient and less expensive technology, the cost of the testing has not dropped, but soared: $3120 for full sequencing + an additional $650 for BART analysis = >$3770 per patient. Cha ching!

Perhaps in response to rising costs and direct-to-consumer advertising, many insurance companies have tightened their belts and their inclusion criteria for testing. HealthNet tried to drop coverage for genetic testing altogether two years ago, before an angry mob of rioters (also called genetic counselors) bled the story to the press. Medicare will now only pay for testing in a person who already has cancer. Kind of obliterates the whole preventive healthcare angle, doesn’t it?

For all of the above reasons, genetic counselors should care about gene patenting. This is important, its effects are far-reaching, and this is precedent-setting. Educate yourself and educate others.

———-

Here is a great clip about Myriad’s BRCA patent from the documentary film In the Family.

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by | June 26, 2009 · 7:09 AM

Guest Post: The “Wholistic” Genetic Counselor of Tomorrow

By Jordanna Joaquina

Jordanna is Director of Genetics and Co-Founder of AccessDNA.com, the first comprehensive online resource for information about hundreds of genetic conditions, topics, tests and Direct-to-Consumer providers. She is a board-certified genetic counselor with a clinical background in multiple disciplines of genetics. Read her complete bio here.

At the Consumer Genetics Conference last week in Boston, MA, most of the genetic “thought leaders” agreed that the technology was advancing quicker than the science. However, we all know that the personalizedmedicinescience will eventually catch up and sooner than we think, we will have made incredible strides. Not only will we identify and validate the genetic variables of disease, but also how they interact with each other, and with non-genetic factors, to affect disease risk and treatment.

And then what? What happens when personalized medicine is not just a crazy, pie-in-the-sky pipedream made up by forward-thinking, eccentric scientists, but a reality, and the new, “right way” to approach and practice medicine?

In this brave new world of personalized medicine, I imagine that every person will have their own personal genetic counselor. Along with primary care physicians or specialists, this new class of genetic counselors will help assess, interpret and guide patients through their risk factors, both genetic and non-genetic.

But if personalized medicine is realized tomorrow, little of us would be prepared to take on this important role – the “wholistic,” as I call it, genetic counselor who specializes in complex disease. Most of us have never even seen whole genome scanning nor whole genome sequencing results, nevermind being asked or expected to interpret them.

So, as genetic counselors, what can/should we do? How do we position ourselves as vital members of the personalized medicine team? How do we better educate and train ourselves and future genetic counselors in the genetics of complex disease as well as emerging genetic technologies? How do we participate in whole genome research, thought groups, and policy-making bodies? How do we continue to advocate for the proper use of genetic information and promote access to genetic services?

How do we begin to see our field and ourselves as one of the most important elements of health care in the next century?

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