Big push for 23andMe at NACDS

“This is a story about why you became … who you are,” a friendly woman’s voice says in the new TV ads for 23andMe genetic tests, explaining further that results offer “unique insights into your health, traits and ancestry”. It was rather surprising to hear my 16 year-old son say that he might want to try it someday.

In addition to learning where his great great great great grandfather came from, which is interesting to him now, some day my son will be able to learn about his genetic traits in the same way as his caffeine consumption, deep sleep, lactose intolerance, muscle composition and saturated fat and weight. But more importantly, many many many years from now, when he wants to be a father, he will know if he carries genes linked to conditions like cystic fibrosis, sickle cell anaemia and hereditary hearing loss (probably not the same condition as the selective hearing loss that happens when it’s time to take out the trash).

Currently available through e-commerce, 23andMe is ready for retail and was promoted with a dominant display at last week’s Total Store Expo, held by the National Association of Chain Drug Stores, in Boston.

Personalised medicine is bring developed to give patients the best possible treatment outcomes in a clinical setting – but 23andMe in CVS or Walgreens is bringing DNA testing to the masses, intriguing even a 16 year old…

The perfect birthday present

Dreading the thought of traipsing up and down the high street failing to get an exciting birthday present for my sister, I was cheerfully reminded last week of personal genome test 23andMe, launched in the UK in December last year. While a breakdown of potential diseases waiting round the corner probably isn’t high on anyone’s Top 10 list of fun birthday things, the potential for better lifestyle management through this simple spit kit is quite extraordinary. Beyond being able to grade genetic traits ranging from smoking, taste perception and male pattern baldness – sis shouldn’t have to worry here – the test is also claimed to break down how your body is predisposed to react to drugs including PPIs, hepatitis C medications and a number of statins. So if healthcare professionals are willing to take on the information seriously, 23andMe could also help prevent thousands of cases of misdiagnosis and improve prescriptions. £125 a test sounds like a pretty fair price to me.

While I wait for her kit (and mine – 10% discount on multiple kits!), it is annoying, but unsurprising, to read a number of cynical online articles regarding privacy, following 23andMe’s second big deal with Pfizer in January 2015, which will focus on the genetics of lupus in 5,000 23andMe customers with the illness. All 5,000 individuals consented to the study and Pfizer will not be able to identify the anonymised patient data at individual level, a feature of 23andMe’s project made explicitly clear on the company website. All of which makes the genetics start-up a far cry from the cloak-and-dagger dealings of social media behemoths like Facebook.

Rather the cynics should look to the extraordinary potential for scientific innovation provided by such collaborations, as put by Pfizer’s Jose-Carlos Gutierrez-Ramos, Group Senior VP and Head of Bio-therapeutics R&D, “The expanding collaboration with 23andMe provides access to a wealth of data… The better we understand the genetic heterogeneity of complex diseases, the faster we may be able to accelerate the pace of development for potential new treatments for the right patient subpopulation.”

Find out more: https://www.23andme.com/en-gb/

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.”