When to Seek Genetic Counseling
Genetic counseling is a professional assessment of a person's or couple's risk factors regarding their family history, medical history, and/or pregnancy history. The goal of genetic counseling is not only to assess risk, but also to explain the cause and inheritance of a disorder, the availability of testing, the prognosis, medical management, and treatment. Genetic counseling sessions typically last one hour or longer, depending on the complexity of the case. Genetic counseling can be provided by a geneticist, by a doctor with special training and Board Certification in genetics, or by genetic counselors. Genetic counselors have a minimum of a master's degree in genetic counseling or a related field, which includes extensive training in human clinical genetics and counseling. The American Board of Genetic Counseling offers a certification examination for this discipline every year.
The following lists potential reasons to seek a referral for genetic counseling and/or genetic evaluation with a genetic doctor.
Family history factors:
Previous child or family history of:
Intellectual disability
Neural tube defects, such as spina bifida
Chromosome abnormalities, such as Down syndrome
Cleft lip or palate
Heart defects
Short stature
Single gene defects, such as cystic fibrosis or PKU
Hearing or visual impairments
Learning disabilities
Psychiatric disorders
Cancers
Multiple pregnancy losses, such as miscarriages, stillbirths, or infant deaths
Other disorders which could be considered genetic
Either parent with an autosomal dominant disorder, or any disorder seen in several generations
Both parents are carriers for an autosomal recessive disorder, diagnosed either by the birth of an affected child or by carrier screening
Mother is a known or presumed carrier of an X-linked disorder, such as hemophilia
Either parent is a known carrier of a balanced chromosome abnormality
Pregnancy factors:
Maternal age 35 years or greater at delivery
Maternal serum screening indicating an increased risk for neural tube defects, Down syndrome, or trisomy 18
Abnormal prenatal diagnostic test results or abnormal prenatal ultrasound examination
Maternal health factors, such as:
Schizophrenia
Depression
Seizures
Alcoholism
Diabetes
Thyroid disorder
Others in which birth defects may be associated either with the disease process or with common medications prescribed for the disease
Fetal or parental exposure to potentially teratogenic, mutagenic, or carcinogenic agents, such as drugs, chemicals, radiation, or infection
Advanced paternal age at the time of conception
Infertility cases where either parent is suspected of having a chromosome abnormality
Couples requiring assisted reproductive techniques to achieve a pregnancy, or individuals donating eggs or sperm for those purposes
Other factors:
People in specific ethnic groups or geographic areas with a higher incidence of certain disorders, such as Tay-Sachs disease, sickle cell disease, or thalassemias
Extreme parental concern or fear of having a child with a birth defect
Cases of consanguinity (parents are blood relatives) or incest where a pregnancy is involved
Premarital or preconception counseling in couples at high risk for genetic disorders based on family or personal medical history