For basic science information about the genetics of retinoblastoma:
http://www.ncbi.nlm.nih.gov/omim

National Cancer Institute Genetics Service Directory:
http://www.cancer.gov/search/genetics_services/

Support network for people with genetic diseases:
http://www.geneticalliance.org

National Society of Genetic Counselors:
http://www.nsgc.org/


 

What is genetic counseling? Genetic counseling is a process in which information about genetics is conveyed in practical and simplified terms. This information is offered to help individuals and families make their own decisions about a planned or actual pregnancy and about medical care and education for a child born with a genetic disorder or birth defect.

For individuals with retinoblastoma or a family with a member with retinoblastoma, genetic counseling may involve a discussion of the following topics:

  • Genetic and non-genetic causes of retinoblastoma
  • Genetic testing options
  • Reproductive options
  • Education about screening for retinal tumors early in life and additional cancers at later ages
  • Management and treatment of second non-ocular cancers
  • Evaluation of the family’s medical history and a possible determination of the chance that retinoblastoma may occur or recur in a family
  • Assistance with contacts to community resources

The people who provide this information are genetic counselors, specially trained professionals who help families understand birth defects and genetic disorders and their mechanisms of inheritance. Genetic counselors work in a team with medical professionals who may diagnose and/or treat birth defects and genetic disorders.

Information and support. Genetic counselors deal with any questions regarding birth defects and genetic disorders in families. An important determination counselors can help make is whether an abnormality was inherited (i.e., genetic disorder) or was caused by unfavorable environmental factors (i.e., birth defect), or a combination of both. Counselors can often estimate the probability that a given inherited disorder will occur or recur in a family.

The genetic counselor’s role is not only to provide information to individuals and families about genetic conditions, but also to facilitate their decision-making process and to support them in the decisions they make pertaining to the genetic information.

What happens during a genetic counseling visit? A genetic counseling session/consultation may include a combination of the following:

  • A discussion and analysis of your family’s medical history.
  • A brief overview of genetics, including the function of DNA, genes, chromosomes and specific inheritance patterns.
  • A review of testing procedures (e.g., prenatal diagnostic procedures, DNA analysis) or a discussion of the results of a test that has already been performed. You may be referred for additional testing.
  • A discussion of the options you have (e.g., DNA analysis, prenatal diagnosis).
  • An explanation of the course of the condition in your family, and of the care individuals with the condition may require.
  • Referral to community resources such as support groups, funding agencies, early intervention programs.

How can I prepare for my genetic counseling session? Plan to spend at least one hour with your genetic counselor. You will have the opportunity to ask all the questions you would like. Consider writing down your questions in advance and bringing them with you. Feel free to bring a friend or family member with you to lend support and to help in providing information to the counselor.

To assist in the evaluation, bring any of the following that are relevant to the visit: important medical records, pathology or laboratory results, X-rays, information about your family history, and photographs of family members who have unusual physical features or characteristics.

All matters discussed during your visit—your values, your goals, the options you wish to take—are confidential. Moreover, the counselor will not sway you to take any course of action or be critical of you for choosing a specific option. Your decisions are yours alone, and the counselor will support you in them.

If you would like to schedule an appointment to speak with a genetic counselor contact your local primary care physician and ask for a referral to a genetics center. Alternatively, you can contact Katherine Beaverson, MS, beaversk@mskcc.org Genetic Counselor with Dr. David Abramson at the Ophthalmic Oncology Service of Memorial Sloan-Kettering Cancer Center.