These traits are often at obvious interfaces with our
environments.and hence study of them helps us appreciate
the nature-nuture balance. Many of these are related
to identifiability
and hence can benefit from special informed consent for research
(noting that nearly all modern genetic data are ‘identifying’; see references
below). We hope that $4K ($500 in a
couple of years) per subject will suffice for resequencing the most conserved
1% of each diploid genome including the most striking exons, enhancers,
UCEs, miRNAs etc.
PGP subjects are already consented for
highly integrative omic & medical imaging studies
and are highly informed, engaged, and competent for detailed self-inspection.
We will try to reconsent HapMap research subjects
too. Suggestions for other traits and/or how to approach the project are
welcome.
Church, GM (2005)
The Personal Genome Project.
Nature EMBO Molecular Systems Biology
McGuire
AL, Gibbs RA (2006). Genetics. No longer de-identified.
Science. 312:370-1.
Lin Z, Altman RB, Owen AB. (2006)
Confidentiality in genome research. Science. 313: 441-2.
Kohane IS , Altman RB (2005) Health-information altruists - a potentially critical
resource. N Engl J Med 353: 2074-7.
Trait
examples in rough order from head to foot
(potential medical consequences, therapeutic/preventative
devices, nutritionals, & pharmaceuticals, if any in parentheses) [known
genetic variants in brackets]
Hair:
Whorl direction
Baldness
(minoxidil)
[alopecia]
Eyebrows
Eyes:
Near
/Far-sightedness (glasses)
Color vision
[colorblindness]
Night visionimage intensifier)
[
night blindnesses]
Iris Color
[ARMD]
Retina exam
Stereo vision
Face: [Malformation syndromes]
Wrinkles
(Botox)
Lip: [Cleft palate] (surgery)
Hirsutism
(calcium thioglycolate)
Ears: Pitch
Sensitivity (hearing aids)
Nose: Size (breathing disorders),
Olfactory variation
Mouth: breath, throat exams,
Polymorphic chemical sensitivities e.g.
PTC taste
[TAS2R38]
Voice
Exhaled aerosols
(airborne pathogens)
Skin: Body odor, Perspiration,
Pheromones,
Surface texture (psoriasis),
Immune components (skin treatments)
[acne]
Skin
color (impact on vitamin D & sunburn)
Hands:
Dermatoglyphics (&syndromes)
Handedness
Arthritis (corticosteroids)
Internal sensors:
Proprioceptor,
Strain sensitivity
[IDD] (analgesics)
Feet:
Plantar fasciitis
(orthotic shoes)
Athlete’s foot (miconazole,
itraconazole,
terbinafine,
keratolytic salicylate)
Some ‘Obvious traits’ include more integrated body measures
Height
(hGH [short stature]) [tall Marfan]
Weight
(phenethylamine [obese])
[anorexia]
Metabolic polymorphisms (vitamins, minerals, insulin)
Pulse
Sleep & Circadian variation (caffeine, amphetamines, modafinil)
Motion sickness (Dramamine, and
Scopolamine)
Dyslexia (training)
Attention-ADHD (Ritalin)
Depression (Prozac)
Allergies (antihistamines,
cortisone,
epinephrine,
theophylline)
Headache (analgesics)
Less obvious & less medical traits. Some traits while considered ‘obvious’ to some, are complex enough combinations the above traits and the medical consequences small (or indirect) enough that they probably would not be in the above list, e.g. athletics, social behavior, intelligence, success, and beauty, but do merit continued ethical, legal and social implications (ELSI) discussion.
--GMC 20-Sep-2006 updated 3-Oct-2006