NIH FHx Conference
I’m leaving today to attend the NIH State-of-the-Science Conference coming up next week. There’s an amazing list of speakers on the agenda (Guttmacher, Khoury, Acheson, Rubinstein, Sharon Terry, Colleen McBride) and in all their short speaking sessions, it’ll be interesting hearing the import of family history in primary care settings.
This’ll be an awesome experience seeing how to best expand and come to consensus on one of the best medical, clinical, genetic, public health tool, really across all disciplines, to assess extent of genetic disease and inheritance. I’m sure many other important people will also be attending.
I’ll be taking notes and reporting back to my program for journal club. Should be exciting, plus I’ll get to see one of my old classmates who’s moved on toward real-life! Let’s hope they have internet so I can update as I go along!
Find more info at:
Supposedly the NSGC president, Steve Keiles, will be live-twittering during the event. Check it out:
Mr. Gene Sherpa has a few things to sy about this too:
Phew, okay, so after a day and a half of nonstop talks and discussions, sounds like there’s a whole lot of ways to look at family history in general practice settings, a whole lot of research that still needs to be done, and not a lot of research that has been done to effectively analyze the procedures, processes, and outcomes of the family history as a tool.
A few key remarks (among my 40 pages of typed notes..) that I thought stood out from the wonderful array of speakers included:
Per Dr. Maren Scheuner:
The Red Flags of Family History include:
- early age at onset
- multifocal disease or severe phenotypes
- 2+ closely related and affected family members
- 2+ generations with affected family members,
- disease in the less often affected sex (in the case of heart disease or breast ca.)
- and patterns suggestive of a known mendelian disorder
These are great and all, but they look awfully similar to the red flags that I talk about in genetic counseling when.. oh, right, evaluating a family history!
There was the idea of stratification of risk into multiple categories of Weak, Moderate, and Strong, that Dr. Scheuner brought up, and then many other speakers touched on. Finding algorithms for determining process outcomes based on each of these family history risk stratification levels seemed a key component of moving family history data into standardized care.
Dr. Paula Yoon made the important point that family history of common conditions, as a tool, performs well for populations, but poorly for the individual. This is, again, not too surprising given the risks we see aren’t quite as black-and-white as we expect, and, to bring it to a counseling standpoint, having disease and not having disease can sometimes be interpreted as very black-and-white to clients, patients.
Dr. Louise Acheson pointed out that good prevention, good surveillance, will over a short period of a few generations, render the family history potentially useless. While it may seem great that families may eventually no longer have manifest disease due to great prevention efforts, the multifactorial elements underlying disease will still be present (especially the genetic components) in future individuals and there’s a need to include biomarkers and disease precursors in the evaluation of family history as these assessments move forward.
Dr. Wendy Rubinstein, on a very very peripheral note, brought up her analysis of the CDC’s Family Healthware experience of using a family history screening tool, and emphasized the need to avoid the word “genetic” in communicating with consumers. I guess subconsciously I’d thought about this and the mental associations/implications with words that we as GCs think are simple, that can occur with any given word. Perhaps this is especially important when trying to create tools that will be applicable and can be related to mixed population groups as a whole.
Dr. Ted Adams talked a bit about the Utah State experience (that’s gone on for decades!) of using high school…. my lunch is here 🙂 more later!