Tonight, WAMUN (the Women’s Association Memorial University of Newfoundland) presented a talk by Dr. Jane Green on Medical Genetic Research.
I was lucky enough that I sat at the same table as Dr. Green for the potluck dinner. We had a nice discussion about “The Immortal Life of Henriette” (a true story about the cancer cells of an African-American woman that have provided us with a lot of information about cellular genetics, but at the same time is an ethically thorny issue because the family didn’t know about this), genetics in general, and the state of genetics in 1965, when she got her Masters, as well as details of a trip she made up to Labrador in the mid-1980s with a few other doctors, and the talk she’d given on genetic diseases at noon for GPs all over the province. (Apparently Wednesday at noon there’s a teleconference for GPs all over the province about a variety of different issues; last week it was prostate cancer, next week it’s conjunctivitis….)
The talk afterwards was really interesting, and ended up going on for quite a while (from 8-9:15/9:30). It was mainly focused on how the population of Newfoundland, with their isolated outports, large families, and so on, were able to help with quite a few genetic diseases. HNPCC – Lynch Disease – (genetic colon/endomitrial cancer), two variations of genetic breast cancer, ARVA (something right ventricular arteriomyelopathy) – sudden early cardiac arrests, Addison’s Disease – adrenal insufficiency, and juvenile macular degeneration (Starsgard(?) disease) were the ones she concentrated on telling us about. It was really, really interesting. She’s a really good speaker, and there were definitely interesting questions at the end.
The focus was on genetic diseases that have one gene mutation that is what affects them; at the moment, there isn’t enough information about the human genome to look at the ones that are affected by a whole host of genes. But she explained the basics of how molecular genetics analysis works (not the process, but the results), and how in 35 years we went from not knowing much about genes and how they work, to mapping the human genome, and in ten years, how we’ve gone from mapping the human genome to being able to identify mutations in genes that create genetic diseases.
She also pointed out that companies like “23 and Me” are, at the moment, not of huge use. Sure, they can provide you with a genetic readout/map of your genome… but they don’t provide the bioinformatics information that lets you know what are just common variations (like hair colour, etc.), and what are potentially rare – thus possibly genetic disease – variations.
She talked about how they distinguish genetic cancers from familial cancers (familial being it happens in your family, with a few people, and genetic tending towards early onset, large numbers of people in the family having it or related cancers, and multiple instances of cancers), and both of those from general population cancers (the low risk, aging population ones). In general (at least in the US), the incidences of colorectal cancers are: Genetic: 3-5%, Familial: 10-30%, and population: 65-75%. In Newfoundland, I believe she mentioned that familial is at 40%, and I think she said genetic was 5-10%.
Like I said, really interesting, and very informative. One of the last slides she showed us was of the variety of genetic diseases that had been identified throughout Newfoundland (and a few in Labrador) which included the ones mentioned above, ocular albinism, hemophilia (in Newfoundland and Labrador), myotonic dystrophy (in Labrador), MEN-1, BBS, and several others.