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    • apm

      In your research, are there ethical considerations to take into account similar to the controversy over the HeLa cell line and Henrietta Lacks?

      • Yes- I think the space in which I work where I most worry about ethical considerations is in genetic relatedness. When you are studying families, the ethical landscape can grow complex. How do you counsel parents of child with a severe recessive disease, if it turns out the dad is not the father?

        How do you respect the wishes of a mother who has made a decision not to perform genetic testing when her children and their father elect to have it performed (creating a situation where the mother's genetic risk can be inferred).

        As a society are we going to decide that law enforcement should be able to mine genomics data to look for criminals? Or look for the relatives of criminals?

        These are hard questions, and what we are capable of doing in genetics to has somewhat outpaced the ability of society to come to a consensus about what should and should not be ok.

    • xorius

      Thanks for coming to do this panel! I noticed that your undergraduate degree is in Mathematics. What made you take the jump from Math into genetics? Was that always the goal for you or was there something that pushed you in that direction?

      • It's funny, I fell in love with genetics in high school, but fell out of love with biology a bit in college. I remember calling my mom in tears, freaking out about my 'crazy' decision to major in math instead of biology- I really looked at it as completely divorced from genetics. At the time, I only understood genetics to be a bench science (think test tubes, and beakers), it never occurred to me that I could do both. Yet my math classes were really satisfying in three ways 1) I felt like I was getting to sit around and solve puzzles all day 2) when you prove something in math, it's finished, there's closure, a beautiful contentedness that you never really get in biology 3) it was so incredibly hard for me and the challenge of it just baited me on. It wasn't until I got to graduate school and studied computational/statistical genetics with Dr. Nancy Cox that I suddenly realized that I could apply math in genetics... that was it for me. I had found my passion.

      • I love to cook massive dinners for crowds of friends and throw epic parties, but I don't always like to socialize and mingle. I cooked a 26 course dinner for my friend on her golden birthday, made 75 lbs of homemade sausage for a fourth of July party (and seven kinds of homemade icecream sandwiches!), and for years used to turn my entire house into a massive haunted house with formal dinner for all my friends at Halloween. But, I usually prefer hiding in the kitchen filling pitchers of cocktails and pulling things in and out of the oven to being out in the middle of the party. It's so bad some of my close friends nicknamed me Gatsby!

    • Do you think there will be a cure for Alzheimers and similar diseases in the next 2 decades?

      What's something mainstream media (e.g. cable news) tends to consistently get wrong in science communication? What medium do you think is best for conveying abstract scientific concepts to the public at large?

    • Vilen

      Genetic testing is becoming more affordable every year with services like 23andMe and Genos, should people invest in their health by taking those test? How reliable are those results for genetic predispositions?

      • 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).

    • Vilen

      Is there a direct link between type 2 diabetes and genetics?

    • Joi Ito, the head of MIT’s media lab, sometimes says he thinks history should be considered just as important as science classes for scientists because historians understand context. I wonder if you have a point of view about this?

      • 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.

    • NikkyJ

      There is a lot of controversy in science today about P values. Can you explain to non-statisticians the best way to understand them?

    • How do you see the advance in long reads sequencing technology transform the gene sequencing?

      • 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.

    • jim

      r/Science has over 1500 moderators. In my opinion, the fact that it functions so well defies science. How on Earth do you manage that as well as a successful career?

      • 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.

    • jim

      Schools typically see most girls lose interest in STEM subjects around 6th grade. How do you think you beat the odds and what would you say to girls at that age right now to encourage them to stick with it?

      • 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.

    • what are your thoughts about the way genetic databases are being filled- often via companies like 23andme- and the ethical implications of using that data to solve crimes, find (unwitting) birth families, etc.?

      • 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.

    • Nancyasked

      Greetings Piper! My husband has a rare neuromuscular disease (Charcot Marie Tooth) deemed to be inherited as an autosomal dominant. He has joined a number of genetic studies: targeted gened, whole exome and now whole genome at the University of Miami. What's next?

      • 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!