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Where Genetics and Primary Care Meet: A Clinical Story

2012 February 21
by Jill Davies

There has been discussion for quite some time about the potential benefits of incorporating genetics/genomics into primary care, however not much evidence exists to support this theory and to date,  few initiatives have been taken to determine how best to achieve this in Canada.  A recent comment from a patient prompted me to look at this again from a different angle – from the angle of the end user, the patient.

To back up a bit and to provide full disclosure, I am a genetic counsellor working in a private health clinic, where for the last 6 years, I have worked alongside physicians, specialists and other healthcare  providers to offer services in the area of prevention and wellness.  In this setting, I have had the unique opportunity to see first-hand the impact that genetics and genomics can have on healthcare, related not only to treatment and diagnosis, but also to health behavior.  Recently, I was asked to become involved in a case where a patient had asked his Medcan physician about options for genetic testing for a rare disease.  His physician and I discussed the case and agreed that genetic testing was appropriate.  Although there are some genetic tests that should be preceded by a physical exam by a geneticist, in this particular case it made much more sense for a primary care physician with knowledge of his clinical history to arrange the testing, rather than having the patient referred to a clinical genetics centre.

We were able to quickly obtain family records and prior approval for out-of-country testing.  I first met with the patient when he came back for the DNA test and after reviewing the genetic aspects of the disease as well as the risks, benefits and limitations of testing, I walked him to the lab to have his blood drawn.  It was at this time that he commented on his surprise at not only the quick response to his request for testing, but also the fact that we (as a team) had knowledge of the condition and were able to grant a request for testing.  He had done a lot of research on his own about the condition and had requested this genetic test several times with his primary care doctor, but was denied due to (in his opinion) the physician’s lack of understanding of the condition, the potential benefits of genetic testing and how to access the test itself. 

His comments really brought to light the benefits of having a genetic counsellor working alongside a primary care doctor.  As we know, this will become even more important as the field moves from identifying genetic mutations that cause rare diseases to the wide use of genomics in predicting common disease risk and pharmacogenomic responses.  And while I’ll be the first to admit that there has been reluctance to adopt this approach, even from the team of physicians that I work closely with every day, I do feel as though I’m helping to shift their view of genetics and genomics by having my practice alongside theirs.

Although the setting in which I work is somewhat unique, I think there are opportunities for genetic counsellors to improve healthcare and healthcare delivery on a broader spectrum.  Of course, the question that we all struggle with is how to best incorporate the delivery of genetic services in a traditional primary care setting? 

A number of limitations have been highlighted, including the lack of physician knowledge and training in genetics and the limited number of qualified genetic counsellors, to name a few.  In Ontario, there are already a number of regional Family Health Teams that employ physicians, nurse practitioners, social workers, dietitians and pharmacists, all working together to help optimize patient care.  It seems to me that having a genetic counsellor support one or several of these teams would be highly beneficial.  In the case of my patient, at least, he would have been able to access the genetic testing he required much more efficiently had his primary care physician been able to collaborate with a genetic counsellor directly.

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