Importance of Genetic Testing in Women’s Health

Importance of Genetic Testing in Women’s Health

As healthcare continues to advance, genetic testing is becoming more affordable and accessible to patients. Genetic testing has many applications including diagnosis of disease, screening for cancer risk or other genetic disorders, and choosing correct medications or treatments for certain conditions.

In gynecology, we are able to offer genetic testing to screen for hereditary cancers and preconception genetic testing for carrier status of hereditary conditions. 

You may qualify for genetic testing to screen for hereditary cancer risk if you have a personal or family history of breast, colorectal, ovarian, pancreatic, or uterine cancer. Some red flags in family history of a potential hereditary cancer would include a diagnosis of ovarian cancer, breast cancer diagnosed age 50 or younger, or Ashkenazi Jewish ancestry. It is important to discuss your family history with your healthcare provider to be able to assess risk, this includes discussing male related cancers including prostate cancer. 

Based on your personal risk factors, family history, and genetic test results, an early detection/screening or risk-reducing plan can be developed for you based on current guidelines. When a cancer risk is detected, this can influence some women’s choices on when, or possibly if, they desire to start a family. 

Genetic testing also plays a role in family planning unrelated to cancer risk. Preconception genetic testing is also available to potential parents to assess risk of passing on serious, hereditary health conditions to their offspring. These conditions are genetically recessive meaning both biological parents would have to carry the same gene in order for offspring to potentially be affected by the tested disease. If only one parent carries the gene, then the gene can be passed to offspring, but will not be affected by the condition. There are multiple panels of genes that can be tested for, which have been selected by the laboratory based on many factors including prevalence and severity of the condition. Additional genetic testing will be available  during pregnancy through a birthing person’s obstetric team to test for additional conditions, such as Down Syndrome. 

My experience in gynecology-oncology has given me the knowledge and passion to discuss and offer genetic testing for my patients. I use genetic testing frequently to assess hereditary risk of cancers and to choose effective treatment options for those who had cancer. I also use genetic testing to counsel patients on their cancer risk and to discuss screening and risk-reducing options for them.

If you have a family history of cancer or are looking to start a family, please come in and let’s discuss your genetic testing options. Call my office or make an online appointment with me today.

Author

Lindsey Syed, WHNP-BC Advance Care Nurse Practitioner specializing in Women's Health