A Triangle Startup Weekend is a a good place to test your ideas and find like minded people to work on a idea you pitch. This weekend I decided to pitch something very close to my heart and my background – an idea for genetic education/guide tool. And surprisingly enough I got an amazing response getting into the top 10 out of 40 pitches presented. What this meant was that I got to put together a team to work on the project. The current working name for our project is geneIQ.
What really prompted this project? A few things that I was involved in recently made me convinced that we as geneticists need to take a lead in genetic education. ASHG conference in Boston was very valuable when it comes to this problem. It appears that community approach to genetics is becoming more and more popular as people want to become involved in understanding their genetic information. Two initiatives were particularly interesting:
1. Free the Data – reaching out to patients to share their own test reports to create a more comprehensive variant database and complement this information with any additional information
2. A call about a myopia study by Nathan Pearson from Ingenuity – reaching out to people who had their full genome sequenced and want to make sense out of the data as well as to people who would be interested in contributing their time and skill in analysis of the data.
Both of those are important steps in engaging the public in creating a better resource for the future.
Public wants to be engaged and wants to understand what they get back from the tests they do. One of the greatest concerns to the individuals who had their DNA tested is getting back conflicting results from multiple tests or having results that are too difficult to understand. Some of those reports assume too much knowledge from the average person. At the same time those same reports are not intended to be shared with a genetic counselor. A big problem is presented by the ancestry reports, as the data interpretation can be challenging and not necessarily give a person the answers they were looking for before taking the test. Having said that, also the health risks tests done by different companies are not delivering the same risk odds for the same disease. While you would expect some differences, they should not be as large as they are for some diseases at the moment. Those tests should definitely be reviewed by a professional counselor and explained to the the individual. Additional issue with the health risk tests is that for some of the conditions there is nothing that can be done to modify the risk. In this case, a question I frequently hear is why to test if I cannot do anything about it? Your results can help family members to understand their health risks as well, it may encourage them to get tested as well. And even more importantly, our medical knowledge is improving and what is non-curable today might be curable soon.
It is pretty obvious that there will be more community genetics initiatives and it is important for geneticists and genetic counselors to support them and give guidance related to genetic testing, inheritance and genetic diseases.
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