What is genetic analysis?
Genetic analysis is genetic testing that examines the chromosomal information contained inside a person’s cells, called DNA. This testing is used to determine whether or not a person has or will develop certain diseases and/or whether or not a person has the tendency to pass a disease onto his or her offspring. This genetic test also helps determine if a couple may be at a higher risk than the general population for having a child affected with a genetic disorder.
According to the National Institute of Health (NIH), many families of certain ethnic groups and cultures are predisposed to certain types of genetic disorders. For example, it is estimated that 1 in 2 Ashkenazim Jews are associated with at least 1 of 38 Jewish genetic disorders, 1 in 11 African Americans carry the Sickle Cell gene, Caucasians have a 1 in 4 risk of developing Cystic Fibrosis, and according to research conducted by the University of Texas Health Science Center in Houston (UTHealth), Mexican-Americans with an ancestral-link to Amerindian tribes were found to have higher incidence of developing metabolic disorders (insulin- resistance levels), which is an indication of several chronic conditions such as type 2 diabetes.
There are other factors also linked to genetic disorders. For example, as a woman ages, her changes of giving birth to a Down’s syndrome baby increases because the older her eggs are, the greater the risk of improper chromosome division. According to Mayo Clinic, by age 35, a woman’s risk of conceiving a child with Down syndrome is about 1 in 350. By age 40, the risk is about 1 in 100, and by age 45, the risk is about 1 in 30. However, most children with Down syndrome are born to women under age 35 because younger women have far more babies.
What is genetic analysis’ impact on disease identification? What is PGT (Predictive Genetic Testing)?
Genetic analysis can save lives, reduce and even possibly eliminate the development of certain genetic and inherited diseases. For example, PGT (Predictive Genetic Testing) is the use of a genetic testing to predict future risks of disease. PGT is a relative new process which arises from the mapping of the human genome (Human Genome Project). It is a sophisticated technology that carries many benefits as well as many risks.
PGT can be beneficial in the following clinical situations:
- Gene-carrier testing-to identify persons with a genetic mutation for a disorder inherited in an Autosomal recessive or X-linked recessive manner,
- Prenatal diagnosis-to determine whether a fetus is affected with a particular disorder and,
- Predictive testing-is available to people who may not have symptoms of any disease but based on their family history are at risk for developing it.
What are the risks associated with PGT?
The risks associated PGT are based on moral and ethical issues regarding people who have undergone this testing. Is the testing done for medical diagnosing or disease prediction? Who will benefit from the testing; the medical profession or the person tested? Some feel that PGT allows an individual to predict the future and predicting the future is not looked upon as an ethical practice in our society; kind of looked upon as a taboo and considered as “cheating nature”. Also, there are many privacy and confidential concerns regarding PGT. With PGT insurance companies may discriminate based on the results as well as employers may deny an individual employment. Last but not least, will notifying a family member of PGT results violate an individual’s privacy and how may the results impact the family’s relationship?
There are pros and cons of all testing and procedures. The key is to weigh the pros and cons and then determine which way to go. PGT should be done for both medial diagnosing and disease prediction. As far as who will benefit from the testing, the medical profession or the person tested I would have to say that there are benefits for both of them. The medical profession can utilize the results of PGT to help other families who may be in similar situations, and the individual getting tested can use the results to help decide with future plans, etc. Predicting the future of physical well-being does not have to be looked upon as a taboo; as “cheating nature“. Rather, PGT should be looked upon as a guide to healthier living and longevity of life. And as far as privacy and confidentiality, an individual reserves the right to get tested or not, as well as the right to disclose or not disclose the results to insurance companies, employers, family members, etc.
PGT not only detects genetic disorders and inherited disorders such as Down’s syndrome, X-Linked Recessive and Auto-Dominant Recessive diseases, metabolic disorders, etc. This testing can also be utilized to detect the risk of individuals developing the most frequent cancer-related mortality. For instance, breast cancer, the most frequently diagnosed cancer in American women and the leading cause of death in women worldwide, is linked to the BReast CAncer (BRCA1 & BRCA2) genes, ovarian cancer, the eighth most common cancer and the fifth leading cause of cancer deaths in the US, is also linked to BRCA1 and BRCA2 genes, and colon-rectal cancer, the 3rd leading cause of cancer deaths in the United States is linked to the Adenomatous Polyposis Coli (APC) gene. And the good news is……the genes linked to these major cancer-related deaths can be detected with PGT; resulting in early treatment, prevention and saving the lives of many people!
If you, a loved-one, or someone you know are thinking of undergoing genetic analysis for whatever reason, talk with your primary healthcare practitioner, weigh the pros and cons of PGT and make the decision that is right for you, your family, and your situation.