OTCs in Action Episode 22: Genetic disorders vs. alcoholic blushes


Although red noses are stereotypically associated with flying reindeer and alcoholics, it’s often a symptom of rosacea, a skin disorder most commonly found in people of Irish and Western European descent. To debunk the blarney, alcohol is a trigger for symptoms but less so than sun exposure, emotional stress, hot weather, wind and heavy exercise. OTCs are in Action this month pioneering the future of personalised self-diagnosis, using DNA to identify genes for rosacea and Bloom Syndrome.In the first case, Google’s 23andMe, the groundbreaking company that is bringing DNA testing to consumers, teamed with researchers at Stanford University to study the data of more than 46,000 23andMe customers who consented to sharing their data for research. The study, available online in The Journal of Investigative Dermatology, found two genetic variants strongly associated with the disease among people of European ancestry. Further, the study uncovered that the genetic variants, or single nucleotide polymorphisms (SNPs), found to be strongly associated with rosacea are in or near the HLA-DRA and BTNL2genes, which are associated with other diseases, including diabetes and coeliac disease.

Additionally, the company went a step further in the self-diagnosis continuum last month, when it was granted authorisation by the FDA to market the Bloom Syndrome carrier status report. Bloom Syndrome is an inherited disorder characterised by short stature, sun-sensitive skin changes, an increased risk of cancer and other health problems. According to the company: “This is an important first step in fulfilling our commitment to return genetic health reports to consumers. This is the first-time the FDA has granted authorisation to market a direct-to-consumer genetic test, and it gives us a regulatory framework for future submissions.

“While this authorisation is for a single carrier status test only; we are committed to returning health information to our US customers who don’t already have this information once more tests have been through this process and we have a more comprehensive product offering.”

Last week, 23andMe announced the creation of a new therapeutics group and appointment of Richard Scheller, PhD, as chief science officer and head of therapeutics to lead it. Dr Scheller retired in December 2014 from a distinguished 14 year career as an executive at Genentech, where he was the executive vice president of research and early development.

When Dr Scheller assumes his post at the beginning of April 2015, he will help build a dedicated research and development team. The therapeutics group aims to use human genetic data as the starting point for identifying new therapies for both common and rare diseases. “I have dedicated my life to research aimed at fulfilling unmet needs for very sick people,” said Dr Scheller. “I believe that human genetics has a very important role to play in finding new treatments for disease. I am excited about the potential for what may be possible through 23andMe’s database. It is unlike any other.”