About Genetic Services

Our genes influence disease risk across a broad spectrum. Genes determine familial traits such as eye color, blood type, and susceptibility to disease. Changes in the genetic material (mutations) can disrupt normal growth and development and may cause birth defects, developmental delay, growth disturbances, and many other health problems. Medical genetics is the field of medicine concerned with genetic changes that influence growth, development, and health. Mutations that cause health problems and/or abnormal development can be inherited or they can occur for the first time in an individual.

The Clinical Genetics Center at the NYU Hospital for Joint Diseases, Center for Children, offers diagnosis, management, and genetic counseling for children and adults with disorders that are known or suspected to result from changes in a person's genetic code.

A genetic evaluation and counseling session is designed to:

• Confirm, diagnose, or rule out a genetic condition
• Provide recommendations for appropriate medical management
• Interpret and communicate information about the disorder
• Provide information about testing options
• Determine if other relatives are at risk for the disorder
• Provide support to families
• Help refer families to appropriate community services

Who could benefit from a genetic evaluation?

If you are concerned that you or another relative may have a genetic disorder, a genetic evaluation can be a part of your search for answers. A correct diagnosis – finding out the cause – can be an important step in planning appropriate medical management. Frequently it is also important to learn if the condition is likely to occur again in your family, find other sources of information, and connect with other families who have similar questions and concerns. A genetic diagnosis with recommendations for management may also be helpful to your other doctors, or to therapists and teachers working with an affected child.

Genetic Evaluation and Counseling

What happens during a genetic evaluation and counseling session?

Each evaluation is different depending upon the reason a family is referred. A medical geneticist (a physician) and a genetic counselor are usually involved in the consultation. Both of these individuals have special training in genetics. The patient’s medical history, prenatal (gestational) history, and family medical history are obtained and evaluated. If other relatives have findings that are possibly related to the patient’s problems, we may request medical records or photographs of those individuals to help with the evaluation. A physical examination is performed, and the pertinent findings are outlined. Laboratory testing of blood or urine samples or other studies such as x-rays may be necessary. Finally, if a diagnosis can be made, the patient and/or family will receive a complete explanation (i.e., genetic counseling) about the condition including what is known about natural history (prognosis), potential causes and their genetic implications, and recommendations for management, preventive measures, testing, and appropriate educational opportunities, etc. 

Although every effort will be made to come to a specific diagnostic conclusion for each patient/family it is, unfortunately, not always possible. If a specific diagnosis is not apparent, then pertinent findings are summarized and the patient and/or family are counseled about the possible causes and given recommendations for further diagnostic evaluation and management.

The visit may also include:

• Determining if others in the family could benefit from testing
• Discussing reproductive options for the patient, his/her parents, or other relatives
• Providing information about other medical issues that can arise in someone with the condition
• Summarizing the current recommendations for treatment and the availability of research projects or clinical trial
• Making referrals to other specialists for medical management and to resources such as support organizations and other families.

Examples of individuals who may be referred to a genetics clinic include those who are affected with or have a family history of:

• One or more birth defects (physical problems) such as a arthrogryposis, limb deficiencies or spina bifida
• Short stature, or other unique physical characteristics
• Conditions known to be caused by altered genes such as neurofibromatosis, muscular dystrophy, dwarfism, and other connective tissue disorders
• Chromosome abnormalities like Down Syndrome
• Mental retardation, autism, or learning disabilities
• Hearing or vision loss
• Personal or family history of a known or suspected genetic disorder, birth defect, or chromosomal abnormality
• Personal or family history of hereditary cancers
• Development of a degenerative disease

While we will make specific recommendations about your medical care, we expect that you will make reproductive or other decisions that are appropriate for you, given your cultural background and personal experience.  The physician or counselor will help you consider the factors that influence your decision-making. This is an important part of the genetic consultation.

Medical information revealed during a genetics consultation is strictly confidential.  Your records and diagnosis are not released to anyone or any institution without your prior written consent. That includes other family members, professionals from other institutions and insurance companies.

To schedule an appointment, please call (212) 598-6215.