Neurofibromatosis Type 1 (NF1): Genetic Counselling

What is genetic counselling?

Genetic counselling helps people understand genetic or inherited disorders. Genetic counselling can also help families make informed choices about whether genetic testing is right for them.

A genetic counsellor is trained and has experience in medical genetics and counselling.

Neurofibromatosis type 1: How a genetic counsellor can help you and your family

If you, your partner, or your child has neurofibromatosis type 1 (NF1) (say: noor-oh-fie-broh-muh-TOE-sis), a genetic counsellor can do the following things:

  • Help you understand a new NF1 diagnosis and provide support for you and your family. The genetic counsellor will also explain where you can find more information and support.
  • Explain how NF1 can be passed down in families, and figure out your risk to have children with NF1.
  • Help you understand the testing options offered to you and discuss both the benefits and limits of genetic testing. She can help you decide if genetic testing is right for you and your family.
  • Explain what tests are available for you, if you are pregnant or plan on becoming pregnant.
  • Can interpret and help families understand the results of genetic testing for NF1.

Ask your doctor about a referral for genetic counselling.

Key points

  • Genetic counselling can help families learn about NF1 and adapt to a new diagnosis.
  • Genetic counselling helps families decide if testing is right for them.
  • A genetic counsellor can figure out the risk of having children with NF1, interpret and help families understand the results of genetic testing for NF1, and help families find more support and information.

Elena Pope, MD, MSc, FRCPC
Patricia Parkin, MD, FRCPC
Stephen Meyn, MD, PhD, FRCPC, FACMG
Andrea Shugar, MS, CGC, CCGC

3/5/2010

National Society of Genetic Counsellors (NSGC). [Cited 2008 Jan 28]. Available from: http://www.nsgc.org/





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