Clinical Genetic Services
Who Provides Genetic Services?

Genetic Counselors are masters level board certified health professionals who work with physician medical geneticists and a multilingual outreach team to
provide information and consultation to individuals and their families regarding the chance of occurrence or recurrence of birth defects, known hereditary disorders, mental retardation and cancer.

The Genetic Counselor will:

fully explain the diagnosis and/or risk for the condition in the patient and family members (children, siblings, etc.).
provide options for carrier testing and prenatal diagnosis for the patient and family members.
provide options, referrals and psychosocial support for pregnancy management decisions after abnormal prenatal diagnosis.
discuss options for presymptomatic DNA analysis for patients and their families at risk for hereditary cancers and late onset conditions.
when appropriate, refer patients for further medical evaluations, to support groups and to social service agencies.

Genetic Counseling services include:

an evaluation of the medical records of family members with birth defects, mental retardation, suspected genetic disorders and suspected hereditary cancers.
explanation of results of abnormal screening and diagnostic tests, such as:
a. the triple blood biochemistry screen in pregnancy
b. blood tests for ethnic-related genetic disorders such as Tay-Sachs, sickle cell anemia, thalassemia, and cystic fibrosis
c. prenatal diagnosis by ultrasound, chorionic villus sampling, and amniocentesis
an extensive family history and pedigree analysis with risk assessment for the patient and family members.
recommendations for additional genetic diagnostic workup and risk management strategies.
written summaries of the genetic consultation to the patient with a copy to the referring physician.
psychosocial support for issues surrounding diagnosis, decision making, and loss.

Medical Geneticists are physicians who are board certified in medical genetics and sometimes one or more other medical specialties, who work closely with genetic counselors to provide genetic health care and primarily perform clinical diagnostic evaluations on patients with complex genetic disorders.

The Medical Geneticist will:

review medical records on the patient and/or relevant family members.
review the family history with special attention to specific diagnostic concerns.
perform a physical examination of the patient(s), when indicated, looking for certain subtle diagnostic clues or signs.
send a written summary of the encounter with recommendations to the referring physician as well as other physicians caring for the patient.
review the results of laboratory or other diagnostic testing and meet again with the patient to review these results if a specific diagnosis is made.
offer to meet with other "at-risk" family members or to make local referrals if a diagnosis is made that has implications for other relatives.

Who to refer for Genetic Services?

CHILDREN with:
- birth defects
- dysmorphic features
- mental retardation of unknown cause
- known or suspected genetic disorder or mental retardation syndrome

ADULTS:
- who are concerned about their family medical history
- who have had multiple miscarriages, a still birth or neonatal deaths
- are over the age 34 and considering pregnancy
- who have a known or suspected genetic disorder
- who are carriers of genetic disorders

PREGNANT WOMEN:
- who are 34 years or older
- who have a known or suspected genetic disorder
- who have been exposed to chemicals, drugs, or alcohol
- who have an abnormal alpha-fetoprotein or triple biochemical screen
- who are carriers or related to carriers of a genetic disorder
- whose partner is a blood relative
- considering prenatal diagnosis (amniocentesis or CVS)
- who have an abnormal prenatal diagnosis
- who have partners who are carriers or have genetic disorders or birth defects

For further information or to make an appointment, the patient or health care provider should call (973) 972-3300.