0:00
Welcome to this
Henry Stewart talk.
The focus this time is
on genetic counseling:
pre-conception,
prenatal and perinatal.
My name is Aubrey Milunsky.
I am the Founder and Director of
the Center for Human Genetics
in Cambridge, Massachusetts.
Previously, I was a
Professor of Human Genetics,
Pediatrics, Obstetrics and
Gynecology and Pathology
at Boston University
School of Medicine.
Now, I am at Tufts University
School of Medicine
as an adjunct Professor.
This talk is focused on
the issues of trying to
avoid catastrophes that could
otherwise have been prevented.
0:42
The first slide has
to do with the issues
that occupy genetic medicine.
As you'll notice,
this is a very important slide
showing that there
are more than 7000
rare genetic disorders
that we know about.
About 1 in 12
people worldwide on
average are carriers
of a genetic disorder.
There are now known
more than 4331 genes
and their mutations with
actual clinical phenotypes.
You'll notice also in the
next line that there are
some 6739 clinical phenotypes.
You might ask, why is that the
case when there's only
that number of genes?
The obvious answer is
that there are some genes
that cause more than one single
clinical appearance or phenotype.
There are also more than 2000
congenital malformations
syndromes,
not all of which
are simply genetic
in the sense of being
inherited or transmissible.
Also, there are more than
1000 different carrier tests,
mostly genetic carrier tests.
