--Posted By johl to <http://www.monochrom.at/english/2008/08/personal-genetics.htm>monochrom at 8/06/2008 11:33:00 AM
The study of the human genome is slowly moving
from the area of professionals to a point where
it's available to amateurs.
<https://www.23andme.com/>23andMe offers a
commericial service to compare your genes with
friends, family and the world and decipher the
history written in your genes
(<https://www.23andme.com/store/>starting at 999
US$).
<http://mydaughtersdna.org/>MyDaughtersDNA.org
takes a different approach in their community
focused on aiding those with challenging genetic
conditions. Non-commericial in nature, it is a
forum dedicated to expanding the understanding of
genetics conditions and variations in the human
genome, motivated by a personal cause:
The inspiration for this site comes from the
unusual coincidence that I was trained as a
clinical geneticist and I have a
<http://mydaughtersdna.org/Members/hyrjr/my-daughter>daughter
with an unknown genetic syndrome. The community
of clinical geneticists have been diligent and
helpful but a definitive diagnosis remains
elusive. It is very possible she has a new
syndrome but despite my efforts, the molecular
(or DNA) variant causing the syndrome is not
known with certainty though I have identified a
<http://mydaughtersdna.org/Members/hyrjr/the-reasoning-behind-the-dna-analysis>candidate.
Were I not a physician trained as a
geneticist, it is likely my daughterâs
condition would be lumped together with other
patients in a category of heterogeneous but
similar clinical conditions. This is the standard
and respectable way that physicians deal with
novelty. It is a way station on the path to some
greater understanding of human biology. It takes
the trained eye to spot the uniqueness of a case,
sometimes a lucky scientific insight, or simply
the tincture of time for science to catch up with
the human condition. In all cases, the question
at hand -- what does she have -- has to be asked
and re-asked and that is best done of everyone.
This site allows that open question to hang out
in the public begging unapologetically for an answer.
