What is Genetic Counseling?
     March of Dimes Genetic Counseling

A genetic disorder is a disease or defect that is inherited and may not always be noticeable at birth. Genetic counseling is a medical service, which may provide a diagnosis if necessary, determine a recurrence risk, help the family understand the disorder and answer questions or concerns. Counseling includes sharing information, discussing the risk of occurrence, helping the family cope with the diagnosis, and assisting the family with objective decision-making. When you see a genetic counselor, your family history will be requested, as your own medical background. Providing information on the diagnosis is essential for the patient and their family members. The information may include appropriate educational materials, information about managing the disorder and a list of available resources. After the genetic counseling visit, a letter is sent to the referring doctor summarizing the visit with any recommendations. This process provides a continous care between the geneticist, the referring doctor and the family.

Who benefits from Genetic Counseling?
    Pre-Pregnancy Counseling

People who might also be interested in genetic counseling may include: those who have concerns that they may have an inherited disorder or birth defect, women who become pregnant after the age of 35, or couples who have a child with mental retardation, an inherited disorder or a birth defect. Couples who have an infant with a genetic disease, which was diagnosed by routine newborn screening, may also wish to discuss their concerns with a genetic counselor. Couples who are closely related or have genetic defects which occur frequently in their famly or ethnic group may also wish to talk to the genetic counselor about their concerns. People who also would find genetic counseling helpful are women who have had three or more miscarriages or babies who died in infancy.

Why is my child referred to a dysmorphologist or clinical geneticist?

Sometimes an individual is referred because of several problems, with the hope that the physician can make a specific diagnosis that explains those problems. Sometimes the individual being evaluated already has a specific diagnosis, and the purpose of the appointment is to convey information regarding the condition and provide genetic counseling to family members. Sometimes an individual is referred so the specialist can help direct the management of a specific birth defect (such as cleft lip and palate).

What will happen during the visit?

Most of the initial visit will involve taking a family history, collecting information about the pregnancy and delivery of the person being evaluated, discussing past evaluations (bring records if you have them), and performing a detailed physical examination assessing differences in structure. None of the primary evaluation should be frightening or painful to a child. If further laboratory testing is necessary, a decision can usually be made at that time. In some instances an individual will need sequential evaluation to clarify a diagnosis. Please bring family photographs to the appointment, as they may be invaluable in discerning family resemblance.

What is a family history?

A family history is the story of one's genetic origins. Family histories can provide important clues to the cause of a problem or to the type of testing that should be considered. The taking of a family history involves questions about the health/developmental status of parents, siblings, their offspring and distant relatives, whether they are living or dead. It involves information about miscarriages and early deaths. It involves questions about ethnicity and family origin. For the clinical geneticist, knowledge of genetic background is helpful in determining whether or not a genetic contribution to the problem in question should be considered.

Who should receive genetic counseling?

• Women age 35 years or older who are considering pregnancy
• Stillbirths or infant deaths resulting from inknown or genetic causes
• Personal or family history of known or suspected genetic disorder
• Exposure to a known or suspected teratogen
• 2 or more pregnancy losses
• Close biological relationhip of parents
• Infertility.
• Abnormal newborn screening results
• One or more major malformation in any organ system
• Abnormalities in growth
• Physical or mental disability affecting more than one family member
• Familial occurence of cancer, such as breast, ovarian or colorectal
• Early onset of common disorders, such as heart disease, breast cancer Alzheimer disease or mental illness
• Single or multiple congenital abnormalities such as club feet, cleft lip and/or calate, heart defects or spinal bifida
• DNA testing for known gene disorders in the family
• Abnormal or delayed development
• Mental retardation
• Failure to thrive in infancy or childhood
• Unusually short or tall stature
• Abnormalities or delays in growth or body proportions
• Delayed or abnormal development of secondary sexual characterisitcs or organs
• Deafness or blindness
• Unusual appearances and/or behavior

What about payment for Genetic Services?

In North Dakota, the cost of genetic services varies. If your insurance policy does not cover genetic services, the Division of Medical Genetics operates on a sliding fee scale. No North Dakotan is denied services for financial reasons, and if you find yourself unable to pay for needed services, please contact our office and we will work with you in locating appropriate assistance.

How do I receive genetic services?

Contact your healthcare professional for a referral or contact our office at 701-777-4277.