The most vital fact that a genetic
testing for family history looks for is whether there is a hereditary
genetic disorder running in the family. This is particularly in reference to
the situation where a couple is looking forward to starting a family. When you
decide to test for family history, you do not require doctor’s cover letter,
but is advisable to go for a genetic counseling session before you actually do
the testing.
This is particularly important as one needs to be
aware of the all the possible consequences of the results, be it negative or
uncertain. There are several emotional issues involved and therefore for the
best interest of the couple, it is necessary that they are equipped to make an
informed choice.
When
is it Genetic Testing for Family History Suggested?
Genetic testing for family history is suggested by
doctors usually when one or any of the partners are aware that they have a
genetic disorder, either in them or in their family. So in order to be assured
on whether they are likely to pass on the said disorder to their offspring,
they opt for genetic testing. Genetic testing is also done when any of the
partners belong to certain ethnic groups that are known for frequent genetic
abnormalities. The screening generally comprises of blood tests and genetic
tests.
Given below is a list of facts that are sought in
genetic testing for family history. The assessment comprise of the following
questions:
Genetic Disorder in Family Members
- Whether any close family member of any of the partners have had a genetic
disorder and the causes of death for their family members.
Overall Health of Family Members
- The overall health of both the first and second degree relatives - First
degree relatives mean parents, children and siblings and second degree
relatives mean the extended family of grandparents,
uncles and aunts.
Infant Death
- Whether there have been instances where the baby has died soon after delivery
in the near family. The assessment also looks for instances if there are
stillbirths or miscarriages or if the baby is born with any congenital birth
defect.
Interracial Marriages
- Interracial marriages amongst relatives are also important factors as it
involves the introduction and presence of new genes in the family pedigree. It
also raises the possibility of an abnormal gene sneaking through in the family
tree.
Ethic Background Check
- The ethnic background is thoroughly checked. This is because certain ethnic
groups are at an increased risk of contracting and developing certain genetic
disorders.
While researching on the family history usually
details of three generations are considered to be enough. But if the facts
discovered are not very clear-cut, the assessment may not be a definitive one.
In such cases facts about distant relatives are also taken into consideration.
Often doctors desire to go through the medical reports of those members who
have contracted a genetic disorder.
Carrier
Screening – Vital Aspect of Genetic Testing for Family History
In most of the cases regarding genetic disorders, it
has been found that the person from whom the genes have passed down did not
necessarily suffer from the same genetic
disorder. It can well be the case that the person was merely a carrier.
Carriers do not show symptoms or the known visible characteristics of the
disease but they can pass on the genes. It is therefore important to find out
whether any members of the family are carriers of certain genetic disorders.
There is this recessive genetic disorder when the
abnormal gene is recessive in character. For the genetic disorder to manifest
itself it is necessary that two copies of the particular gene must be similar.
A prenatal
diagnostic testing is suggested if any of the partners are found to carry a
recessive gene.
