Chances are in your family there’s a history of some disease, cancer, heart disease, asthma, Parkinson's. I've made the point before that frequently our knowledge of our family disease history is so spotty, and consequently the seriousness with which the average family practitioner takes the information so superficial, that it seriously limits the real benefit.I've also pointed out that DNA testing is a much surer way to determine whether or not the genes known to be associated with a particular disease have been passed on to that particular individual.
However, being the wrong kind of doctor (PhD) to give out medical advice, I was interested to read the views of someone with excellent credentials.
My previous comments came to mind while reading "The Language of Life" subtitled "DNA and the revolution in personalized medicine" by Francis S. Collins.
The book is not about family history so I won't review it here. although I did enjoy it. But Collins, who as Director of the National Institutes of Health in the US should know what he's talking about, makes points similar to mine.
On family history, Collins says that “family health history turns out to be the strongest of all currently measurable risk factors for many common conditions.” But then he goes on “all too often the information is not collected, or simply ignored,” and “less than 30% of Americans have actively collected health information from our relatives.”
No wonder it’s ignored if it’s unreliable. Maybe there is, or some day will be, a business line here for professional genealogists to certify the provenance, if not the accuracy of the original diagnosis or autopsy results, for information that goes into such health family histories.
Collins recommends a web-based resource at http://familyhistory.hhs.gov to make it easy for people to collect their own family health histories.
On the benefits of genetic testing, a situation Collins described particularly struck me, a woman who came from a family with a strong history of breast cancer. Given the high risk she had decided to schedule a mastectomy, but before the operation could be carried out the results of a DNA test came in. It showed that she had not inherited the BRCA1 gene responsible for the disease that had struck her mother and her two sisters. Her risk of developing the disease was no greater than for any other woman, and as a consequence the operation did not proceed.
Read more about the book, published just this year, here.
Our family has had DNA testing done for an uncommon type of thyroid disease. Some people carry the disease and do not get it. One person had the disease which prompted the hospital to test the parents of this person. The result is that several people have been tested and have had preventative surgery. Others have been tested and found to not have the gene. One person in the family has been responsible for sending info to others. The hospital and doctors did not take any responsibility for this. It was only due to family initiatives that anything was done beyond the immediate family. Privacy issues of course prevent one from finding out what distant relatives have this gene. The lab research doctor and the MD in London Ontario have been very helpful. It is interesting to note that some people who have been informed have decided not to be tested.
ReplyDeleteJust thought it might be interesting to tell this story. I hope it seems relevant. Anne S.