Sir John Burn, Alison and when to order a genetic test.
Recently I watched Sir John Burn’s interview with Alison – a very polite and lovely science teacher from the UK who unfortunately passed away one year after the interview was recorded.
From the interview, I learnt that Alison had been aware ever since she was a child that several women in her family had died in their thirties or forties from cancer.
Sadly, the medical profession (at the time) considered these cancers to be caused by environmental factors, not an underlying genetic cause.
So when Alison herself fell seriously ill and sought treatment, she asked for genetic tests, but was told that her recollections of cancer in her family were irrelevant to her condition and amounted to hearsay.
After Alison’s death, Sir John Burn wrote an editorial urging the medical community to reconsider at what point in diagnosis genetic tests should be ordered for patients. I wonder what impact Sir John Burn’s cautionary tale of Alison’s diagnosis and treatment has had, and reading through it recently, I’m reminded of the Australian Government’s announcements to reduce funding for pathology and other diagnostic services in 2016 .
Having reflected on the medical profession’s reluctance to order a genetic test for Alison, it would seem we should be very cautious of reducing funds for pathology services without exhaustive consumer protections, precisely because of stories like Alison’s - where a genetic test later confirmed she had BRCA2 deficient ovarian cancer - by which stage it was too late.
Aside from caution, I think there are many other things we can learn from Alison’s story. To my mind it would seem as though there is a great opportunity yet to be fully realised by families, namely, the heirloom of one’s comprehensive family medical history.
This week my grandmother is busy collecting ancestral information; having hit a few dead ends, she perseveres in peering into our families past.
Taking insight from Alison and Sir John Burn, I wish that alongside the wonderfully enriching experience of learning about our family’s cultural history, my grandmother would devote equally as much time learning about our family’s medical history.
What an amazing heirloom to pass down from generation to generation – a comprehensive family medical history that will forever be added to and come to be somewhat central to an individual’s bearing on their genetic lineage – what it means and how knowing more about it can help them in prevention, diagnosis and treatment of diseases they may face. More specifically, well defined families with comprehensive medical histories are vital to our ability to interpret the pathogenicity of variants - a situation Sir John Burn and the Human Variome Project are working to improve.
But we’re all a bunch of individuals now – could we really be bothered calling up our aunties or uncles and second cousins and great aunts and other even more obscure relatives in far away diasporas?
Perhaps this new embrace of collectivism will come riding in on the wave of genomics, powered by concern for our own individual health. As Sir John Burn might tell you, Lynch Syndrome carriers’ lifetime increased risk for colorectal cancer is 25-70% greater (but maybe aspirin can help).
But how do I know if I’m a carrier for Lynch Syndrome or any number of hereditary illnesses? In this highly diasporic and individualised world, maybe my family has had cases of colon cancer that no one in my immediate family is aware of.
I’ve got distant relatives across the United Kingdom, my red hair and inability to tan are a clear reflection of this. But have any of these distant relatives experienced some symptoms of a hereditary disease? Do any of them have a hereditary disease that I’m unaware of?
On what basis would I reconnect with my distant family to talk about hereditary disease? Perhaps when holidaying in Newcastle I could call them up and ask “Hey I’m just compiling our comprehensive family medical history, fancy a cuppa?”.
I’m inclined to believe that the swing toward greater collectivism will come with family-mediated genomics, with each individual becoming more aware of the medical benefits we can get as individuals with a robust family medical history.
Even though sequencing costs have drastically fallen, genetic tests are still considered too expensive to be wasted on hearsay. Hopefully in the future Next-Generation-Sequencing (NGS) methods will enable genetic tests to be ordered more readily, but we are not there yet. Connecting with our families through time and across nations puts us one step closer to a more collective world. A world where Alison’s family medical history would have been treated as more than hearsay from the moment she spoke up.
How well does your family know it’s medical history?
Please comment below and let’s see if we all need to invest in this vitally important family heirloom before the knowledge is lost forever.
Written by Peter Collins
Peter works as a Communications and Administration Officer for the Human Variome Project Australian Node and International Coordinating Office.