And the Winner Is …

isitlilly.jpgCould this be Lilly Mendel?

The judges have met and a winner has been chosen.

In the first 23andMe Win Your Genome Contest, the challenge was to describe Lilly Mendel — a real person whose data are presented in the 23andMe demo account — based on her genetic information alone. As we declared in the announcement of the contest, entries were judged based on accuracy, creativity and cleverness.

Cleverness we got. More than one entrant actually claimed to BE Lilly Mendel. Many entries employed flattery by concentrating on Lilly’s physical attractiveness, intelligence and athletic ability — very clever.

As for creativity, we have no idea where some of you got the idea that Lilly’s family harbors a secret fear of “gigantism,” that she enjoys dancing the tango or that her nose twitches when she gets angry. And though her genes may indicate a preference for the bignay fruit, we have no idea if she has ever tasted it.

But the clear winner in all three categories was Mike Cariaso, who sent us a detailed description based on data from the SNPedia database, an online compendium of genetic associations. Using software he has written (and made publicly available) that evaluates raw 23andMe data using the SNPedia database, he assembled a formidable description of Lilly. Its accuracy may have suffered a bit from the author’s speculation, but the creativity of those conjectures more than made up for it.

Click here to see Mike’s entry, which he posted on the SNPedia page (you can also see it after the jump). The description is annotated with SNPs and brief descriptions of what he gleaned from each of them.

As the winner of our first contest, Mike receives the 23andMe Personal Genome Serviceâ„¢ for a person of his choice. We thank everyone else who entered, and encourage you to enter the next one, which should be announced in a few weeks.

Lilly Mendel is a female caucasian

  • rs1426654(A;A) probably light-skinned, European ancestry
  • rs2814778(T;T) Duffy blood group antigen. suggests european ancestry
  • rs25487(A;G) 2x higher risk for skin cancer

with beautiful blue eyes,

brunette hair

and an interesting personality.

  • rs4570625(G;G) higher scores on anxiety-related personality traits
  • rs1800955(C;T) influences personality

Everyone’s who’s ever met her knows that. Fewer people know she’s a night owl

who likes to finish her evening with french vanilla ice cream and a glass of white wine.

Even fewer people know of the signs of alcoholism in her family tree

Or how those family issues may have helped to trigger a period of depression during her teens. After experimenting with several medications doctors found that citalopram seemed to work well for her.

  • rs2156921(G;G) increased risk of depression
  • rs2235015(G;G) 7x less likely to respond to certain antidepressants
  • rs2032583(T;T) 7x less likely to respond to certain antidepressants
  • rs2235040(G;G) 7x more likely to respond to certain antidepressants
  • rs2235067(G;G) 7x more likely to respond to certain antidepressants
  • rs12720067(G;G) 7x more likely to respond to certain antidepressants
  • rs1954787(C;C) depression is ~10% more likely to respond to citalopram
  • rs2518224(A;A) citalopram will not increase suicidal thoughts

Earlier genetic testing might have prevented 8 months of frustrating experimentation.

In her mid 30s she experienced a blood clot. By now genome scans were a part of a patient’s electronic medical records. Her tests revealed the need to prescribe a smaller than usual dose of warfarin

This was the excuse she’d needed to quit smoking. Doing so was surprisingly easy since there were now medicines customized to her genetics.

That same report revealed she had dyslexia

  • rs761100(C;C) higher risk for dyslexia
  • rs3212236(T;T) higher risk for dyslexia
  • Based on rs793862(A;G) rs807701(G;G) genotypes she must be carrying one copy of the haplotype rs793862(A)-rs807701(C) which is linked to increased risk of dyslexia.

which she’d easily overcome

She hadn’t expected to see that, but somehow she felt she’d always sort of known. What came as a surprise was that instead of the usual advice to exercise more she learned that her jogging might actually be something to watch out for

Based on her specific genetics

  • rs10494366(T;T) Shorter QT interval
  • rs9739493(T;T) higher risk for hypertension
  • rs173686(G;G) stroke risk
  • rs326(A;A) lower HDL cholesterol
  • rs2412522(G;G) Framingham related to cardiovascular disease for mean corpuscular hemoglobin concentration

Her doctors opted for a daily statin to help keep her heart healthy

  • rs1799768(-;-) a deletion which increases risk of myocardial infarction
  • rs3900940(C;T) increased risk of coronary heart disease; better response to statins
  • rs2298566(C;C) increased risk of coronary heart disease; better response to statins
  • rs5918(C;T) heart attack risk, aspirin resistance

She’s become more vigilant about regular mammograms.

  • rs1008805(C;T) increased risk of breast cancer
  • rs931127(A;G) 2.15x more likely to have lymph node metastasis
  • rs351855(C;C) inefficacy of herceptin

And learned that as she ages those beautiful blue eyes may fail her

  • rs2165241(C;T) 4.4x increased risk of exfoliation glaucoma
  • rs1329428(G;G) 2x increased risk for macular degeneration

So she’s started some daily eye exercises, become a participant in a research study and taken up photography.