Genetic consultation seeks to establish a specific diagnosis, which is necessary before genetic counseling can be offered. Steps in identifying a individual or family’s diagnosis include a review of medical and family history, a physical examination, laboratory testing and/or other procedures such as X-rays. Genetic consultation is provided by a physician trained and Board-Certified in Medical Genetics.
What is Genetic Counseling?
Genetic counseling, which follows genetic consultation, is the process of explaining medical information about an inherited disorder or birth defect to an individual or family. Genetic counseling seeks to help families and individuals to understand medical information, to make appropriate decisions about their health care, and to manage any associated problems in a way that is best for them. Ideally, these decisions will reflect personal values and cultural beliefs. Genetic counselors offer support throughout this process. Counseling is provided by a Masters-level genetic counselor, with help from the physician geneticist. They explain the condition and its management, how it is inherited, available testing, the risk to other family members, and the probability of having children with the disorder. They also explore the impact of the condition on both affected and unaffected family members and aid in their adjustment to the diagnosis.
What happens at a Genetics Appointment?
Prior to or during the visit, the genetic counselor will take a detailed family history and review medical records. A typical appointments last one hour or more. A physical exam is often performed by a clinical geneticist. Further testing or evaluation may be recommended to establish or clarify a diagnosis. Other family members will occasionally need to be examined or tested. The genetic implications as well as the management and treatment of the condition will be discussed. Referrals may be made to family support groups or other community resources. Specific gene (DNA) or chromosome tests are not available for all conditions. However, since the field of genetics is rapidly advancing, it is important to periodically re-contact your Genetic Counselor.
CONSULTATIONS FOR HEREDITARY PREDISPOSITION TO CANCER
Can Cancer be Hereditary?
Most cancer in families is not due to an inherited predisposition. However, up to 10% of breast and ovarian cancer and 5-10% of colon and some other cancers are linked to inherited altered genes. Genes are the “blueprints” for cell growth and development. Individuals who inherit a “cancer susceptibility” gene have a much higher risk of developing cancer during their lifetime, often before age 50. Several cancer predisposition genes have now been identified. Two of the major breast cancer genes are called BRCA1 and BRCA2. Mutations in these genes result in a high risk of breast and ovarian cancer. Several other genes are linked to an increased risk of colon or other digestive system cancers. In rare cases a gene change may cause multiple types of cancer in a single family. Evaluation of your family history can allow a genetic counselor or clinical geneticist to estimate your risk to have one of these genes. DNA testing may help families and their physicians make informed decisions about their health care.
Should I be Concerned?
You have a higher chance of having an inherited predisposition to cancer in the following situations:
• If you have had ovarian or breast cancer before age 50
• If you have one or more close relatives with breast or ovarian cancer before 50
• If you have had two different cancers
• If you have a personal or family history of colon cancer before age 50
• If you are of Ashkenazi Jewish descent and have a family history of cancer
• If you have more than one close relative with cancer before age 50, even if the cancers are of different types.
What is Familial Cancer?
Most cancer in families is not due to an inherited predisposition. However, up to 10% of breast and ovarian cancer and 5-10% of colon and some other cancers are linked to inherited altered genes. Genes are the “blueprints” for cell growth and development. Individuals who inherit a “cancer susceptibility” gene have a much higher risk of developing cancer during their lifetime, often before age 50. Several cancer predisposition genes have now been identified. Two of the major breast cancer genes are called BRCA1 and BRCA2. Mutations in these genes result in a high risk of breast and ovarian cancer. Several other genes are linked to an increased risk of colon or other digestive system cancers. In rare cases a gene change may cause multiple types of cancer in a single family. Evaluation of your family history can allow a genetic counselor or clinical geneticist to estimate your risk to have one of these genes. DNA testing may help families and their physicians make informed decisions about their health care. What should you do?
If you are concerned about your personal or family history, you can speak with your health care provider. Your provider may then refer you to our Genetic Risk Assessment Program. Genetic evaluation and counseling are the first steps in determining the chances that you or your family may have a hereditary predisposition to cancer. If gene testing might be helpful, that option will be explored. Gene testing is not for everyone! The pros and cons need to be carefully weighed. You can decide with your genetic counselor whether gene testing is right for you.
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Not at this time, however you can find any definitions and answers here.
