NJDOH – New Born Screening & Genetic Services

Posted: January 23, 2015 at 5:44 pm

Science has helped us understand how blue eyes or baldness as well as other inherited traits both harmless and harmful can run in a family. In the past few decades, largely due to the Human Genome Project and other scientific endeavors, knowledge has exploded in the field of human genetics.

Genetic services available in New Jersey include direct clinical care services as well as activities such as screening programs and laboratory services, educational activities and birth defects surveillance. The State of New Jersey partially funds a network of Genetic Centers [see the list at bottom of page] that provide testing, diagnosis, and ongoing management and comprehensive care of genetic conditions. Physicians specially trained in medical genetics, along with genetic counselors, nurses, social workers and other medical specialists provide comprehensive care to patients with genetic concerns.

Services may include some or all of the following: a review of your family and medical history; physical examination; laboratory testing; genetic counseling/education; and management or referral to other specialists experienced in treating or managing rare disorders. These services can provide information on certain disorders that you or your child may have inherited, how genetic conditions may be passed from one generation to another in a family, and what the risks are that certain conditions will affect you, your present or future pregnancies, or other members of your family.

Genetic counseling translates the science of genetics into practical information. Anyone who has unanswered questions about diseases or traits in their family should consider genetic counseling. People who might be especially interested are:

Resources:

American College of Medical Genetics (ACMG) http://www.acmg.net

Genetic Alliance http://www.geneticalliance.org/

Genetics Home Reference http://ghr.nlm.nih.gov/

Human Genetics Association of New Jersey (HGANJ) http://www.hganj.org

National Newborn Screening & Genetic Resource Center (NNSGRC) http://genes-r-us.uthscsa.edu/

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NJDOH - New Born Screening & Genetic Services

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