How can I be screened for genetic diseases?
Your primary doctor or OB/GYN may order the tests but it is strongly recommended to see a genetics professional* to discuss the most current information available. Depending on your health insurance, you may need a referral or you can go directly to a genetic counselor in your network to discuss screening.
Published opinions and recommendations:
ACOG Committee Opinion - American College of Obstetricians and Gynecologists
ACMG - American College of Medical Genetics
NTSAD Position Statement - Tay-Sachs Carrier Screening
NTSAD Carrier Screening - Public Service Announcement - Video published on YouTube
*Or other genetics professionals such as a genetic counselor or geneticist.
Can genetic diseases be prevented?
Until a cure is found education, awareness and prevention are the only ways to avoid heartache and loss. EVERYONE, regardless of heritage, should speak with their doctor about genetic counseling and their risk before getting pregnant.
We are all carriers of recessive genetic diseases but standard healthcare practice does not screen everyone for all diseases because the technology does yet exist to accurately and cost effectively screen everyone. Your doctor and / or genetic counselor can help determine based on your family history and heritage which diseases you are at risk to carry.
It is highly recommended to pursue carrier screening before pregnancy because the hormones can reduce the test accuracy.