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    • I don't know that buying a direct-to-consumer genetics test like 23andMe or Genos is really an investment in health so much as a fun diversion that can give you rough estimates of where your ancestors came from. The role of complex genomics for shaping clinical decisions or improving health is still very much up for debate (large effect size rare variants on the other hand can have major impacts on health and treatment, but are not well measured by most consumer products). Some geneticists are extremely optimistic about polygenic risk scores, some geneticists are very pessimistic (for example, check out the discussion following this tweet:

      Regardless, it's important to remember that medical decisions should be made under the advisement of a clinical genetics expert based on a CLIA certified genetic test (which to my knowledge, the kind of kits you are referring to are not).

    • I love this- those who cannot remember the past are condemned to repeat it, right? I'm biased because I went to Carleton College, but I think a liberal arts education provides a phenomenal foundation for professions in STEM.

    • I actually wrote a piece on P values recently!

      P-values indicate how incompatible data are with a specified statistical model or hypothesis.

      The American Statistical Association noted, "researchers often wish to turn a P value into a statement about the truth of a null hypothesis, or about the probability that random chance produced the observed data. The P value is neither. It is a statement about data in relation to a specified hypothetical explanation and is not a statement about the explanation itself."

      Their whole piece on P values is excellent and written in a way that I think is readable even to folks without a background in statistics:

    • I am very worried about the long term implications of private genomic data warrehouses like 23andMe and Ancestry. What is a fun novelty today may have very serious implications down the road for privacy and even health. For example, if people are given a 'low risk' profile for diabetes or obesity, it may impact behavior (they could eat more, thinking, "It's ok, I have low risk!"), even though this 'low risk' evaluation has little to no clinical relevance. At the same time, some of these companies will partner with researchers to help inform disease gene discovery, propelling personal/precision genetic medicine, which is potentially a very positive thing. So it's a mixed bag. I think we will learn a lot about data privacy and policy in the next few years as Facebook faces additional regulation- hopefully direct-to-consumer genetics companies can avoid some of these privacy challenges and politicians can be more proactive about putting laws in place that protect individuals and their data.

    • First of all, I'm sorry you and your husband are faced with the challenges of CMT, and I wish you all the best. It looks like the studies he has participated in have followed the trend of human genetics: we started out studying candidate genes, moved to whole exomes when the technology became afforadable, and now even whole genomes can be sequenced at a reasonable price. I'm not a CMT expert, but if you are asking what's next in the trajectory of genomic research, your husband might next be asked to participate in whole genome expression studies that measure RNA. And on the more distant horizon, companies are now claiming to be working on adult human gene editing...

      I hope for your family, that these studies are fruitful, and that translational therapeutics are rapidly forthcoming!

    • My husband is a cyclist and I am a triathlete, and I am much much slower on the bike than he is- we joke that I prefer to do many things poorly rather than any one thing well ;)

      Thank you for your appreciation of r/science! Because so much of scientific research is publicly funded, I believe that researchers have an obligation to do outreach and communicate science to the public- in that endeavor, with >21M subscribed readers, r/science is a major communication resource.

      In practice, only a small portion of the 1500 moderators are active in any given month (less than 5% have more than a handful of moderation actions), and the 'power moderators' are in pretty tight communication on a daily basis. I can't say enough good things about that team of moderators- they are truly amazing in their dedication to promoting high quality scientific communication and discussion.

    • My parents are both very math and science-minded. My dad was a mechanical engineer and my mom developed science curricula for primary school, founded a math and science camp, and has a very scientific approach to how she operates in the world (in everything from the quilts she designs to the courses in robotics and lego-logo she created for elementary school kids). It was really influential having parents that were creators and inventors, and who didn't shy away from challenging math. At the same time, I think my mom is still a little disappointed that I didn't become an opera singer ;)

      I was probably around ten years old, and I'm not sure who said it to me... but you know how it's really common for people for people to demur about math? Saying things like, "Oh, I'm TERRIBLE at math!" almost with a bit of pride in their voice? When I was a kid, someone pointed out how weird that is! How even though math intuition is just as intrinsic to the adult human brain as reading (think about the subconscious calculations your brain is doing just to know when and how hard to start breaking to stop your car at a stop light) no one would ever say, "Oh, I can't READ! I SUCK at READING!"

      It put it in my brain early that the notion that it is somehow cool to suck at math is a weird (dumb) cultural phenomenon; I think I still cringe a little when someone brags about being bad at math.

    • Long reads are going to be awesome for robusting detecting structural variants and copy number polymorphisms! Right now these can be hard to detect with short read sequence data and as a result there is a whole class of variants whose effect on human health we are doing a poor job of detecting.