Patients are referred for a variety of indications including:
Women who are over the age of 35
Individuals who known to be at risk for carrying a genetic disorder because of family history or ethnic background.
Parents of a child with a genetic disorder or birth defect
Parents with a child with mental retardation or developmental delay
Individuals who have had abnormal first or second trimester screening tests for birth defects.
Individuals or couples who have had multiple miscarriages or pregnancy losses
Women exposed to certain medications, drugs, significant radiation and/or particular infections during pregnancy.
Women who have a medical condition that could affect the pregnancy
If a physical birth defect or suspicious sign of a genetic condition is identified on ultrasound.
Both parents are carriers for an autosomal recessive gene (i.e. sickle cell anemia, cystic fibrosis, Tay Sachs)
One parent carries a balanced chromosome rearrangement.
Couples who are experiencing infertility
The goal of the hereditary cancer program is to provide individual risk assessment that can be incorporated into the patient’s ongoing medical care. The program evaluates families with multiple members with cancer (of the same or different type) for the purpose of assessing the likelihood of a hereditary cancer syndrome. Patients are usually referred by their physician based upon their personal medical and/or family histories.
Often several sessions are required. The initial session includes a review of the patient’s medical history as well as three generational family history. The counselor will review this information within the context of risk for a hereditary cancer syndrome. The benefits, risks and limitations of testing will be described in detail. Often testing options can be offered at an initial visit. However, sometimes it is necessary to collect medical records on affected family members in order to understand the risk that exists for the patient and family. Genetic testing will then be offered if appropriate. If the patient decides to proceed with testing a final appointment is scheduled to review the results in person. This visit includes interpretation of the results a discussion of how this information affects medical management and the impact on the extended family.
Some important factors that would indicate this type of evaluation include:
Cancer that developed at an early age, usually less than 50
Individuals with rare cancer i.e. male breast cancer
More than one primary cancer in an affected individual
Other physical signs such as colon polyps, moles, desmoids tumors, thyroid nodules, and fatty tumors
Different cancers in a family that are known to be genetically related such as breast and ovarian cancers
Several generations in the family affected by cancer
Clustering of cancers that are known to be genetically related (such as breast and ovarian, colon and uterine and breast and thyroid)
Breast or ovarian cancer and Ashkenazi (eastern European) Jewish ancestry
An identified genetic mutation in the family
Known cancer syndrome in the family (for example Lynch syndrome, Cowden syndrome, MEN and others)
Newborn Screening/Genetic Errors of Metabolism
The genetics service evaluates children, adolescents and adults with known or suspected metabolic disorders. The program provides diagnostic confirmation, treatment, management; genetic counseling and family support . Pregnant women with PKU as well as other metabolic conditions are managed together with their obstetricians.
The service is a designated NJ state newborn screening follow up center. In that role, babies are often seen on the same day of the report to evaluate and confirm or rule out the presumably positive diagnosis. These inborn errors of metabolism include but are not limited to amino acid disorders, disorders of fatty acid oxidation and disorders of organic acids. Upon diagnostic confirmation, management by a board certified medical geneticist, genetic counselor and registered dietitian is provided.
Approximately three percent of all living newborns have a birth defect or health problem. These conditions may be evident shortly after birth or later in life. One study reports that a genetic component was identified in 71 percent of children admitted to pediatric hospitals.
Children are evaluated as both outpatients and inpatients by a medical geneticist and genetic counselor. These consultations are usually recommended for: birth defects, known or suspected genetic syndrome, developmental delay and/or autism of unknown cause and family history of a genetic condition.
The patient and family are seen initially by the genetic counselor. At that time the medial history will be reviewed in detail, and a three generation family history will be taken. The genetic counselor will review all of this information with the medical geneticist who will then examine the child. Clinical impressions and testing recommendations will be discussed with the parents.
Laboratory tests such as blood tests, urine tests, imaging studies (x rays, CT scans, MRI) or EKG may be necessary. Referrals may be made to other specialists. Your child’s blood can be drawn at the medical center by a pediatric phlebotomist or we can provide you with a requisition for your capitated laboratory. You can then go to the laboratory draw station at your convenience.
Follow up appointments are scheduled to review the results of the testing. If a diagnosis is made medical management recommendations are made and your child will be followed regularly by the medical geneticist and genetic counselor that originally saw your child. This provides for continuity of care. If a diagnosis is not made we may want to follow your child annually since scientists are making new discoveries in genetics all of the time, we may learn about new genes, diagnostic tests and treatments that might be helpful to your child.
Some of the reasons that children are referred to the pediatric genetics service include:
Birth defect such as cleft lip, heart defects
Inherited disorders (cystic fibrosis, hemophilia)
Chromosome disorders (Turner syndrome, Down syndrome)
Metabolic disorders (PKU, galactosemia)
Features that suggest a possible syndrome
Adult Onset Genetics
There are some genetic diseases such as Huntington’s disease, Marfan syndrome, Ehlers Danlos syndrome or some forms of muscular dystrophy that affect individuals after the age of 18 or well into adulthood. Individuals who are worried about developing a condition that runs in the family or who are developing symptoms of the familial condition would be referred for an evaluation, risk assessment and testing when applicable by their primary care physician.