As a double genetic Rare Disease patient, genetic counseling is one of the subjects which has been on my mind much - consider it one of the human factors which I've alluded to. And...consider it one the the bedrocks of not only the Rare Disease experience, but that of other genetically-linked chronic illnesses, and a plethora of cancers, most notably those involving the BRCA mutations. It is - ask almost any patient who has undergone this type of counseling - indispensable in the contexts of understanding the underpinnings of illness and fostering awareness of reproductive risks and preventative measures.
It was an article which I was hesitant to read when I first saw the title: A group approach to genetic counselling of cardiomyopathy patients: satisfaction and psychological outcomes sufficient for further implementation. Hesitant I was in the beginning, asking myself "why in the world would group genetic counseling even be considered when individual counseling could, quite obviously, assess and address the needs of the individual in a more effective manner?" Out of curiosity, I delved into the article which appears in the February issue of the European Journal of Human Genetics. In the article, rationale for group genetic counseling was not difficult to ascertain - it was distinguishable in two lead-in sentences:
No real dissection of the words necessary and forget for a moment that the research deals with cardiomyopathy - for the sake of argument it could be dealing with any rare genetic disorder: from ALS to Cystic Fibrosis, Moroteaux Lamy Syndrome to Santavuori Disease. The bottom line is the advent of widespread genome sequencing is exacerbating an already existent shortage of genetic counselors - a shortage, not just in Europe, but virtually every country. And as the number of patients in need of said counseling increases exponentially, the problem will increase at the same rate.
We are already in an era, with the advent of direct-to-consumer genetic tests, in which an increasing number of diagnosees are receiving DNA test results as email attachments. Group counseling for - in many cases - devastating, life-altering, and life-ending - diagnoses could in my opinion be a notch in the belt of removing the ''personalized" from personalized medicine. If Individuals need group support, there are post-diagnostic settings and resources available - genetic counseling should and must remain individualized.
My genetic counseling sessions proved an invaluable - I'll call it indispensable - component of my 'genetic journey.' They were highly personalized and due to the matter discussed, emotional - tears were shed. Can I imagine, in retrospect, feeling as comfortable or that my needs were being met in an individual, humanistic manner were the counseling sessions done in a group setting with a roomful of other patients present? No. That's the emotional response. The 'cerebral' response is a bit different. One of the foundations of the current medical revolutions - Genomics and Precision Medicine (call it Personalized Medicine if you prefer) - Is that no two patients are alike. Despite having the same diagnosis all similarities can end - from the cellular level, to the mutation level, to the individual human being, to disease presentation and family history, no two individuals are identical. It is the reason why traditional one-size-fits-all medicine is being usurped by a precision, personalized approach.
An insightful article - video actually - appeared in the February 5th issue of the Wall Street Journal titled Precision Medicine: Gene Sequencing Is Not Enough. Consider the title rhetorical - the answer a resounding No - it is not nearly enough. Human factors are an inextricable link in mass-Moonshot-Medicine. I've said it before and I'll say it again - the 'genetic journey' is not just a medical one, it is a human one - a highly personalized one. Professionals across the spectrum must understand this concept in order to implement patient-centric medicine - truth be told, they haven't had remarkable scorecards in the past in this context. It will be critical in this 'brave new world' to recognize that at the heart of all 23 pairs of chromosomes (plus/minus), 23,000 genes, and 3 billion base-pairs, is a living, breathing human being - a human being whose reality has just been altered by diagnosis - a human being in need of answers, compassion and attention.
Precision Medicine and the Genomics-era are in their early stages. 100,000 will be sequenced in England, 1 million in the US. There are smaller projects underway in a number of locales and similar initiatives being discussed across the globe. The technology of Genomics has already proven itself as an effective diagnostic tool - proliferation of that tech and the lowering of cost will, in any pundits eyes, result in a veritable explosion in the number of individuals sequenced - and the number of genetic disorders uncovered.
Will human factors be able to keep pace with technology? The shortage of genetic counselors is but one example of gaps which will need to be addressed in order to ensure individuals receive services they need in medicine's new era. Technology and humanism are not mutually-exclusive, however it will take tangible steps and careful planning to make sure they run parallel into the future.