Serving Maryland and Washington D.C. 301.870.1200

Genetic Testing Could Lead to Misdiagnoses Due to Non-Diverse Genetic Databases

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 to Misdiagnosis

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.

Categories: