Genetic Testing

You may be interested in genetic testing if you are looking to identify or rule out a specific genetic or chromosomal condition. Many women request genetic testing to confirm a diagnosis if a particular condition is suspected, such as testing for the BRCA “breast cancer gene,” in which carriers have a much higher lifetime risk of developing breast cancer. Parents may opt for genetic testing while their child is in the womb, too, in which case, both the mother and father are tested. Examples of conditions parents can pass to their children include cystic fibrosis, sickle cell disease, and spinal muscular atrophy, among many others.

The results of their genetic test can influence their healthcare choices or treatment options.

Obstetrics & Women’s Health

Carrier testing is used to identify people who carry one copy of a gene mutation that, when present in two copies, causes a genetic disorder. This type of testing is offered to individuals who have a family history of a genetic disorder or to people in certain ethnic groups with an increased risk of specific genetic conditions. If both parents are tested, the test can provide information about a couple’s risk of having a child with a genetic condition. Examples of conditions tested with carrier testing include cystic fibrosis, sickle cell disease and spinal muscular atrophy. Patients requiring this service may be referred to Memorial Medical Group Genetics on a case-by-case basis.

Primary Care, Women’s Health, Gastroenterology & Medical Oncology

Genetic testing is available for healthy individuals, some cancer patients and certain family members of cancer patients to determine if there is an increased risk or predisposition to developing cancer, when there is suspicion that cancer may run in the family. Genetic testing for cancer genes can provide information about a person’s risk of developing certain cancers, and a personalized care plan can be developed with earlier screening in hopes of preventing cancer. To meet this need for inherited cancer risk screening, Memorial Medical Group Genetics will provide intake screening questionnaires using up-to-date inclusion criteria in your clinic to determine which of your patients may benefit from genetic testing. When a patient’s questionnaire is positive, you may initiate a referral to the Genetics Clinic.