[nukkad] Genetic Disorders

["drtaher" <>]

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Ameer wrote:

>>OFFSPRINGS with INBORN
MENTAL/BODY DISABILITIES

It is said that there is greater occurrence
of Inborn Mental / Physical Disabilities
in offsprings from parents
who are close relatives.

Would appreciate any substantial data.

 ... Ameer ...<<
Dear Ameer,

A Comet System Search gave up this article from
www.washington.edu/newsroom/news:


"FIRST COUSINS FACE LOWER RISK OF HAVING CHILDREN WITH GENETIC CONDITIONS
THAN IS WIDELY PERCEIVED:



Cousins contemplating marriage or concerned about a pregnancy arising from
their union have often found it difficult to get accurate information about
risks to their offspring.

In a paper published in the April issue of the Journal of Genetic
Counseling, a task force made up of genetic counselors, physicians and
epidemiologists, among others, has evaluated the evidence about risks for
offspring for first cousins and provides guidelines for counseling and
advising such couples.

The task force was brought together by the National Society of Genetic
Counselors. It considered recommendations for various unions of
consanguineous (literally, blood-sharing) couples related as second cousins
or more closely.

The consensus of the task force and those who reviewed the recommendations
"is that beyond a thorough medical family history with follow-up of
significant findings, no additional preconception screening is recommended
for consanguineous couples." They should, of course, be offered genetic
screening tests that would routinely be offered to other couples of their
ethnic group.

"Because of widespread misconceptions about the actual level of risk to
offspring, some of these pregnancies are terminated and other couples suffer
a lot of needless anxiety," said Robin Bennett, lead author of the paper and
president-elect of the National Society of Genetic Counselors. Bennett is a
certified genetic counselor at University of Washington Medical Center and
manages the Genetic Medicine Clinic there.

Relatively few studies have documented actual risks to the offspring of
consanguineous unions, the authors note, and many of the studies that have
been done are flawed in terms of their relevance for the general population.
The task force reviewed all studies published in English in the medical
literature, and some additional materials.

What the authors were looking for is the additional risk of significant
birth defects (mental retardation or genetic disorders) -- or risk that is
more than that faced by the general population of couples. For example, for
couples, if the base (general population) risk of genetic conditions is 5
percent, it's the additional risk that is important for consanguineous
couples to know.

Although they emphasize that it's not possible to come up with one number
for all populations of consanguineous couples, the authors estimate the
additional risk to range from 1.7 to 2.8 percent for first cousin unions.
>From her experience in counseling, Bennett believes these numbers are far
lower than most people's perception of the risk.

 In some societies, the authors note, cousin marriages are actually
traditionally preferred and quite common.
Better information and appropriate guidelines are especially needed by
physicians and genetic counselors who work with these groups so that more
objective and culturally respectful services can be provided.

The paper also includes guidelines for screening for the recessive genes
that can produce offspring with disorders of metabolism or hearing
disorders, among others. In many cases, these disorders can be treated if
found early in life. In the same vein, the importance of routine, regular
early childhood pediatric care, as set out in American Academy of Pediatrics
guidelines, is emphasized for children of cousin unions.

And what about the laws preventing cousins from marrying? The authors note
such laws may eventually change as a result of evidence about actual risks."


....HOPE THIS HELPS!!
-Dr. Taher Kagalwala(drtaher@rolta.net)





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