A well-known adage has stated that knowledge is power. Many believe that
the more he or she knows, the better the decisions can be made for how
he or she lives life. This is especially true when it comes to a person’s
health. Having knowledge about one’s family medical history is considered
to be extremely important, in particular, when deciding how to best mitigate
risks when one has a medical history prone to one illness or another.
The Importance of Genetic Testing
Genetic testing has aided in this quest for medical knowledge, which has put people on
notice of which disorders, diseases, or other maladies may not only affect
his or her life but also may be inheritable by offspring. If a person
knows that he or she may be more susceptible to certain cancers or if
he or she is more susceptible to a disease whose likelihood increases
based on behavior, like heart disease, choices and decisions can be made.
Knowledge may make a person more vigilant and aware of possible symptoms
of that disease or act in a way that decreases one’s likelihood
of contracting the disease.
Though genetic testing has been extremely important in helping people be
aware of possible ailments that they have inherited through their family
tree, it has been found that sometimes genetic tests may lead to an inaccurate
evaluation or misdiagnosis.
Genetic Testing Can Lead to Misdiagnosis
According to the
New England Journal of Medicine, doctors and researchers were putting together a genetic testing database
to help determine the risk for targeted populations of contracting hypertrophic
cardiomyopathy (HCM). Harvard researchers, over the last decade, had identified
genetic variants which were considered to be causally linked with HCM.
However, it was determined that the populations that they assessed had
been limited and evidenced a relationship between these variants and HCM
that was actually less substantial to the point of almost nonexistent.
The database itself did not have enough substantial genetic information
relating to African Americans; the variants actually occurred more frequently
in the African American population than in the white population. Had the
database been more sufficiently data-filled, researchers would have noticed
that the variants occurred more frequently and were actually not causally
related to HCM, and therefore benign.
The database and the research surrounding these variants and their association
with HCM had been heavily relied upon and used as a risk standard for
many patients. The results of several patients were run through the laboratory
and these patients’ results were actually misclassified: the five
African Americans and two patients of unknown ethnicity were misdiagnosed
as having the variants associated with HCM.
Lack of Racial and Ethnic DNA Variants in Genetic Databases Could Lead
Many researchers believe that the
lack of diversity in genetic databases while researching possible genetic links to diseases and disorders, may
be an epidemic problem, and not solely associated with HCM. Many databases
are not as racially or ethnically inclusive or diverse to accommodate
all DNA variants that are related directly to theracial or ethnic disparities. As genetic testing becomes more and more a common experience to determine
risk with regards to certain diseases and disorders, there could be more
misdiagnoses that may affect how people live their lives. Some men and
women, depending on the disorder, may believe their risk is so high for
a certain disease that they determine to not conceive offspring in fear
of passing along a genetic disorder.
Charles County, MD Personal Injury Lawyers that Fight for You
If you or a loved one was misdiagnosed as a result of genetic testing or
a medical professional’s negligence, it is important to consult
with an experienced personal injury attorney. Please call the
Law Office of Robert R. Castro at (301) 804-2312 for a confidential consultation.