The Helix homepage innocently depicts a smiling, quite-pleased-with-her-new-found-information model pushing a cow out of the way because her DNA tells her she has lactose intolerance. I wonder if it might not be more appropriate to show the following depiction of a patient who has received worrisome news from a DNA screen.
- Parkinson’s disease, a nervous system disorder impacting movement;
- Late-onset Alzheimer’s disease, a progressive brain disorder that destroys memory and thinking skills;
- Celiac disease, a disorder resulting in the inability to digest gluten;
- Alpha-1 antitrypsin deficiency, a disorder that raises the risk of lung and liver disease;
- Early-onset primary dystonia, a movement disorder involving involuntary muscle contractions and other uncontrolled movements;
- Factor XI deficiency, a blood clotting disorder;
- Gaucher disease type 1, an organ and tissue disorder;
- Glucose-6-Phosphate Dehydrogenase deficiency, also known as G6PD, a red blood cell condition;
- Hereditary hemochromatosis, an iron overload disorder; and
- Hereditary thrombophilia, a blood clot disorder.
Please note that some of these diseases, when properly diagnosed in a clinical setting, have fairly negative consequences for patients: Parkinson's and Alzheimer, for example.
This is just a small glimpse of the avalanche of this kind of testing to come. As I mentioned above, helix (2) is offering the possibility of multiple rounds of testing. Already, 23andme is seeking to study 25,000 people with depression and bipolar disorder (5).
Even more worrisome in my opinion, is: Who is going to do what with this information? And who is it going to be sold to (6)?
1. JAMA. 2017;317(24):2485-2486. doi:10.1001/jama.2017.5929.
3. DOI: 10.7326/M17-1045.