Genomics

Breast cancer genetic testing checks for the presence of the BRCA1 or BRCA2, sometimes called the breast cancer gene. These are mutations to genes that suggest you may be at higher risk for developing breast cancer or ovarian cancer.

The BRCA gene test is a blood test offered to individuals at risk of having the inherited mutation, based on family history of breast cancer or ovarian cancer. You may be a good candidate for BRCA gene screening if you have a personal history of:

• Breast cancer diagnosis and Ashkenazi (Eastern European) Jewish ancestry
• Breast cancer diagnosed before age 45
• Breast cancer diagnosed before age 50 and a secondary breast cancer
• Male breast cancer
• Ovarian cancer
• Pancreatic or prostate cancer AND two or more relatives with BRCA-associated cancers
• Triple-negative breast cancer diagnosed before age 60
• Two or more cancers

Your family history can also indicate your risk of having the BRCA gene mutation. Talk to your doctor about breast cancer genetic testing if your family history includes:

• Breast cancer diagnosed in one or more relatives before age 50 OR two or more relatives at any age
• Known breast cancer gene in a relative
• Male breast cancer diagnosed in one or more relatives
• Ovarian cancer diagnosed in one or more relatives
• Pancreatic cancer diagnosed in two or more relatives
• Prostate cancer diagnosed in two or more relatives

Our clinic sees adult patients with any personal or family history of any cancer type, including counseling services. This may involve family history, genetic testing and evaluation, counseling about how to manage your risk and testing for genetic relatives of those with a positive result.

Our clinic sees adult and pediatric patients suspected or known to have inheritable cardiovascular conditions, including cardiomyopathy, amyloidosis, arrhythmias, familial hypercholesterolemia (FH), aortopathies and pulmonary hypertension. Our nurse navigator team can assist with specialty referrals along with connecting patients with genetic counselors, medical genetic specialists. Our program's comprehensive approach includes:

• Evaluation of family history
• Genetic testing and evaluation
• Counseling about how to manage your risk
• Testing for genetic testing of relatives if a positive result is found

Our Center of Excellence for Hypertrophic Cardiomyopathy (HCM) care program allows for genetic testing of patients and the relatives of patients with a positive genetic marker.

Genetic screenings offer parents-to-be detailed information about the health of their baby. Genetic testing in pregnancy can screen for medical conditions or genetic diseases.

Additionally, DNA tests before pregnancy can identify if you or your partner are carriers for a genetic disorder. Talk to your doctor to determine if you need genetic testing before or during pregnancy.

Genetic Carrier Screening

A blood or saliva test, taken before you’re pregnant, can identify the risk of you and your partner passing on a genetic disorder. Current DNA medical tests look for many conditions, including cystic fibrosis, sickle cell anemia, spinal muscular atrophy and others.

Your obstetrician can discuss whether you’re a candidate for genetic testing in pregnancy. Be sure to talk to your provider about any questions or concerns you have.

A paternity test can give you peace of mind when it comes to your child’s paternity. There are many different reasons you may need a DNA paternity test, including to:

• Confirm your right, or your child’s right, to legal or social benefits, like social security or inheritance
• Gain a clear picture of your, or your child’s, family medical history
• Meet legal requirements in many states for Acknowledgement of Paternity (AOP)
• Strengthen family bonds

Talk to your obstetrician about the test that’s right for you.

AdventHealth for Children is the first and only children's hospital in Central Florida to provide rapid, whole-genome sequencing (an advanced diagnostic technology) that can quickly identify the causes of rare genetic disorders in some of the infants and children who are the most ill.

Through a partnership with Rady Children’s Institute for Genomic Medicine, we have access to a state-of-the-art genome sequencing lab that employs a multidisciplinary team of experts specializing in providing timely and accurate guidance to physicians caring for children with rare genetic disease. This partnership is the latest in AdventHealth's investment in genomics and will change the future of health care.