Category Archives: Her Nature Posts

Education, but not Genetic Counseling

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Cause for concern?

I read a lot about direct-to-consumer genetic testing, and there is little that I read these days that catches me by surprise. So, when I read that 23andMe started selling their services in Southern California outpatient health centers, I didn’t really blink an eye. Until I read this:

Those who purchase the service at these facilities will also receive a 30-minute educational session with a PPH nurse, who will answer questions about genetic testing using educational materials developed by 23andMe. Referrals are provided to genetic counselors, but the education session is not genetic counseling.”

I guess I appreciate that 23andMe made the effort to explicitly state that they are not providing genetic counseling services. But it seems to me that they are going to great lengths not to provide genetic counseling. This system implies that the education piece can be done completely separately from the counseling piece.

I see a fundamental difference between not providing genetic counseling to an online customer vs. putting a customer face-to-face with a healthcare provider and deliberately not providing any counseling. More on this difference later. For now, I’d be interested to sit in on one of these educational sessions. Do the nurses have any additional training in genetics? Is there a protocol for identifying those patients who would benefit from a referral to a genetic counselor? Are online customers ever provided an option for a referral to a genetic counselor? Anyone who can provide clarification, it would be greatly appreciated.

Five reasons GCs should blog

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Last week I gave a presentation to a group of genetic counsellors entitled “Health 2.0: What it is, and why we should know about it.” My hope was to generate some interest among GCs in becoming more engaged with the online community, be it patients, other health professionals or researchers. Thought I would take this concept a step further here.

FIVE REASONS GCs SHOULD BLOG

  1. Personal development. It is easy to become caught up in the minutia of our everyday lives. Blogging demands that we consider the bigger picture, a viewpoint that I feel is essential.
  2. Professional development. Create opportunities. Scan this list of blogger’s favourite stories for the infinite ways that blogging can benefit your career. Network, without the expensive conference fees.
  3. Enhance the visibility of our profession. As a small and relatively unknown profession, we can benefit from the exposure.
  4. Contribute to (and help define) a global conversation. Clearly, genetic counsellors have a lot to say. But all too often our online contributions tend to be reactive, rather than proactive. So why not be the one to start the conversation?
  5. Stay relevant. The web has revolutionized the way in which people communicate and connect. As I have said before, for such a cutting edge field, we are surprising stagnant when it comes to innovation with the counsellor-patient interaction. Becoming more active participants in online conversations will enable us to adapt and stay relevant in our community.

I am happy to report that very soon a GC-authored group blog will be a reality! Thanks to some hard-working like-minded colleagues, the blog will be up and running soon. Please give me a shout if you’re interested in getting involved. Otherwise, stay tuned…

Risks, Benefits and Patient Empowerment

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I read an interesting article by Dr. Roni Zeiger about the importance of asking your doctor to outline all of the risks and benefits of any treatment or procedure prior to consenting to it.

In his own words

Your job as an informed consumer of healthcare is to make sure that the
benefits outweigh the risks. The stakes are too high for you to assume
that your doctor knows this…Demand the facts and make informed decisions. Your life depends on it.

I posted a comment on the article directly, but thought I would elaborate a little bit here. I think this argument particularly interesting in the context of a genetic counselling session. Part of my job is to outline the benefits (such as providing valuable information for family members) and the risks (such as the potential for future insurance discrimination) of pursuing a genetic test. After reviewing the risks and benefits,  we will ask the patient if he/she would like to proceed. I have always personally felt this to be a strength of my profession. Based on Dr. Zeiger’s argument above, we are ahead of the game.

However, I occasionally get the sense that people are confused by this process because it goes against the general flow of most other medical appointments. Also, there are some people who would prefer not to hear any of the risks, benefits and limitations of the test. Instead, they are only interested in hearing what we think they should do.

I don’t think there is any right or wrong way to be a patient. But if you align yourself with the patient empowerment camp, you’ll find like-minded healthcare providers in your genetics clinic. If you’d rather not hear the details, it could be a frustrating experience for you.

Valuing Context

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We are losing our ancestral knowledge because the technicians only believe in modern science and cannot read the sky.

-Andean peasant expression

I read this quote in an ethnobotany course I took while on exchange in Kenya several years ago. Although clearly unintended, I have always found it so perfectly relevant to genetics. One of the things I love most about the field is the importance of taking a step back and looking at the bigger picture. A patient’s bizarre mix of symptoms can often be understood only when taken in the context of his/her family history. One’s decision to pursue or not pursue a genetic test will make sense when you take into account their current familial, social or vocational situation. A population based screening program has the potential to alter our understanding of “marital compatibility” and preventative medicine.

A while ago I wrote about the focus on the human aspect of the medical experience as a strength of the field of genetic counseling. The more I get caught up in the minutia of busy clinic life, the easier it becomes to lose sight of this perspective. Blogging forces me to take a step back and challenge myself to engage in the larger conversation. For this reason, I encourage my fellow GCs to give it a try too.

Interested in starting a personal or group blog? Please comment here or send me an email.

Valentine’s Special on Cord Blood!

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A friend forwarded this email to me recently:

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Nothing says ‘I love you’ like a gift voucher for cord blood banking!

The storage of cord blood (blood collected from the umbilical cord of a newborn) is something I admittedly don’t know all that much about. I do know that cord blood is rich with hematopoietic stem cells that have the unique ability to differentiate into several kinds of mature blood cell types. This makes it particularly useful as a donor source for the treatment of various childhood diseases, including a few genetic diseases. Parents can choose to donate their child’s cord blood to a public registry (set up for the benefit of the general public) or pay to store it through a private registry, like the one featured above.

In looking at the 2007 American Academy of Pediatrics policy statement, it seems that the medical community is not particularly enamored with private registries.  They recommend that “cord blood-banking registries recruitement practices should be developed with an awareness of the possible emotional vulnerability of pregnant women and their family and friends.” I wonder if this includes boyfriends and husbands who are scrambling to find a last-minute valentine’s day gift idea?

Going Public with Private Info

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Benefits of sharing health information on the web

I recently attended a talk on the “Importance of the Case Study.” In the world of medical research where large sample sizes and replication studies reign, the speaker, a geneticist, challenged the audience to remember the importance of the single anomalous patient. He described a large filing cabinet full of his undiagnosed cases sitting in his office. It is imperative, he argued, that geneticists revisit these cases every few years for the sake of the patients, parents and the advancement of medicine.

As I listened, I pictured thousands of dusty filing cabinets sitting idle in medical buildings across the world; the files of patients with syndromes of unknown genetic etiology trapped inside. Surely there must be some way to “store” these cases virtually? Enter MyDaughtersDNA.org. As creator Dr. Hugh Rienhoff describes:

The inspiration for this site comes from the unusual coincidence that I was trained as a clinical geneticist and I have a daughter with an unknown genetic syndrome. Were I not a physician trained as a geneticist, it is likely my daughter’s condition would be lumped together with other patients in a category of heterogeneous but similar clinical conditions…It takes the trained eye to spot the uniqueness of a case, sometimes a lucky scientific insight, or simply the tincture of time for science to catch up with the human condition. In all cases, the question at hand — what does she have –  has to be asked and re-asked and that is best done of everyone. This site allows that open question to hang out in the public begging unapologetically for an answer.

This article in Wired chronicles Rienhoff’s story in detail.

There has been a lot of talk lately about the benefits of public thinking for personal health issues. In my opinion, MyDaughtersDNA.org is an excellent example of the benefits of an open-source approach to healthcare, and genetics in particular. While I recognize that there are some important ethical and logistical issues with this type of website (of which I hope to discuss another time), I am encouraged by the spirit of collaboration and empowerment that it represents.

Healthcare providers in social media

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Personal expression, Professional hesitation

A while ago I wrote about Jay Parkinson, the physician who loves the internet. His practice, Hello Health allows patients to interact with their doctor in numerous ways, including video chat, instant messaging or email. Not surprisingly you can learn more about Dr. Jay on his blog or follow him on Twitter.

As I learn about and become more comfortable with social media on my personal time, I can’t help but think about how these new tools may or may not have a place in my future professional role. Berci Mesko’s Webicina.com seeks to help health professionals answer this exact question. I’m excited by the idea of integrating new and more efficient ways of interacting with patients. However, the potential of these tools to blur the line between personal and professional roles makes me hesitant.

Some are already debating the question “is it OK for a doctor to follow his patients on twitter?” or visa versa? Are the answers to these questions different as a GC?

A large part of my job as a Genetic Counsellor involves putting aside my personal opinions in order to allow patients to make a decision that is uniquely right for them. While physicians commonly advise their patients about what to do, GCs are trained (for better or worse) to avoid advice-giving. The premise behind this practice is that decisions about whether or not to pursue genetic testing is personal, and can often involve complex social, psychological and emotional implications.

So, does expressing my personal opinion through social media compromise my non-directive professional role? I don’t think so (as is evident by the fact that I continue to write for this blog). But it has the potential to change things. Just as I feel unease when I encounter one of my patients in a public setting, I would feel uneasy if a patient decided to follow me on Twitter. Anyone else out there struggling with these reservations?

I am not alone!

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A couple of promising things have happened in the past week.  Thanks to google alerts I have found two other GC bloggers! Although their sites are more personal and less professionally focused, I’m thrilled to see  Rachel in Montreal and Andrea in New York online. If there are others out there, please contact me.  I love the idea of a well-developed network of GCs representing our voice online.

Secondly, I became the newest member of the “Horizon Scan Workgroup,” a CAGC task force with the mission of identifying and reporting on emerging areas of practice for GCs in Canada. I’m excited about this new role, and looking forward to seeing what develops.

’08 His and Her Highlights

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As the two of us go back to work tomorrow we thought we’d each take a quick look back at three professionally-related highlights from 2008. It’s been a great year (well technically only 8 months here), thanks so much for hangin’ with us!

Sean 08:

Allie 08:

  • Obtaining a Master’s in Human Genetics.
  • Getting hired on as a Genetic Counsellor at an innovative clinic. Appreciating how much I’ve learned and how much more there is to learn
  • Representing the GC voice online – in the blogosphere (am I alone here?), with Gene Scene on Facebook, and on Twitter

Bonus Highlight: The crazy response to Allie’s Phelps/Marfan post. Who knew so many people searched “Michael Phelps naked”? Who knew it would direct them here?

Web Bolsters Parent Advocacy

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Parents have proven to be some of the best health advocates. The exponential expansion of newborn screening in the past few years is a prime example of the huge impact that parents can have on health policy. As with most other things, the internet and social media have served to exacerbate the impact of the parent advocate. The popularity and strength of the “mommy-blogger” is testament to this. But can a powerful parent advocate be dangerous?

There are a couple of examples that I have been thinking about lately. The juxtaposition between these two cases serve to highlight, in my opinion, the necessity and potential pitfalls of parent advocacy.

Addi and Cassi Hempel, Neimann-Pick Cpicture-5

I first heard about Addi and Cassi, the twins with “childhood alzheimer’s” (officially Neimann-Pick C or NPC), last Christmas. My sister forwarded me a link to addiandcassi.com after she’d heard about them through a friend of a friend. Addi and Cassi’s parents had set up the website so that friends, family and strangers could stay informed and share their thoughts, prayers and wishes for the twins. Since that time, it seems that Addi and Cassi are everywhere! Their parents, Chris and Hugh Hempel, have collaboarated with various groups, including the National Human Genome Research Institute (NHGRI), clinicians who specialze in NPC, international researchers and other parents. They have fought to push research, funding and awareness forward. Most recently, the twins were featured in the November issue of The Scientist magazine (registration required for viewing).

The Hempels message is one of hope and unity. They have managed to facilitate collaboration among an interdisciplinary group of researchers and scientists– quite a feat in the peer-reviewed world of academia. In learning about this family, you can’t help but feel that the NPC community would be at a huge loss without their work. And it has only been one year.

Jenny McCarthy and Autismjenny-062707-a

Jenny McCarthy and her son were featured on the cover of US Weekly a few months ago. The tagline read “Beating Autism: How I Saved My Son.” I found the accompanying article particularly disturbing.

As is widely known, Jenny McCarthy attributes her son Evan’s autism to his vaccinations:

“I don’t think autism is genetic. I have a family history of genetic vulnerability that my kid can’t detox vaccines…In 1983, when kids only got 10 shots, autism was 1 in 10,000. Now kids get 36 shots, and the odds are 1 in 150 they’re on the autism spectrum… When Evan went in, I was scared…They put the needle in his leg and he screamed. I felt a chill. It was like I was watching destiny happen, loss of eye contact, loss of language.”

There are several flaws in the above argument, the most obvious being that countless other things have changed for children between 1983 and today. Secondly, published studies do not support McCarthy’s vaccination hypothesis. But scrolling through the personal testimonials on generationrescue.org, a McCarthy endorsed website, I understand why parents of children with autism would find the information compelling. They cite scientific evidence and describe a study they conducted comparing the rates of autism in vaccinated and unvaccinated children. McCarthy criticizes the CDC for not conducting similar studies on a national level and encourages parents to see beyond the “rhetoric of public health officials.”

On more than one occasion I’ve heard physicians talk about treating children in hospital with diseases such as measles, which had become somewhat obsolete since the MMR vaccination became mainstream. When the message being delivered is not based on sound science and could potentially harm children, I think parent advocacy can be dangerous. It can also serve to alienate people. Who is advocating for those parents who tried the special vaccination detox diet and couldn’t “recover” their child from autism?

Social media, Social responsibility

Much in the same way that Jenny McCarthy has leveraged her “celebrity,” social media gives parents the opportuniy to amplify their voices and their cause. With this opportunity, however, comes a social responsibility to ensure that your message is comprehensive and based in truth. I believe that health-related advocacy work requires some collaboration with health proffessionals– even when their opinion differs from your own. I hope that parent advocates can take a page from the Hempels’ book, in order to make sure that their much needed work saves lives, rather than harms them.