7/27/2019 Ataxia-Telangiectasia Communication

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Communicating a genetic diagnosisAtaxia-Telangiectasia

Published October 2013© NCHPEG All rights reserved 

A genetic diagnosis can explain the cause on an individual’s symptoms and sometimes identify personalized treatment options.

However, a genetic diagnosis can also identify unexpected information about both the patient and extended family members.

Communicating testing results and implications of a diagnosis clearly and compassionately is important to help patients and their

families adapt to results, make informed decisions and convey appropriate information to their relatives.

This handout models communication around a diagnosis of Ataxia-Telangiectasia (AT). For more information on these topics, see the

tools Patient-Centered Communication Tips and Communicating Genetic Testing Results, and the Ataxia-Telangiectasia Factsheet. 

Key implications of the diagnosis & communication tips

Key Point Individuals with AT have a progressive neurological disease and an increased risk for cancer and respiratory

infections.

Expert Tips

Discuss the symptoms and prognosis for this condition honestly and openly. Ask the family how much they want to

know about the condition at this stage of the diagnostic work-up. Listen carefully and leave enough time to answer

questions. Emphasize positives such as potential for normal intelligence and ability to screen prospectively for

complications. Provide a plan for follow up if the testing confirms this diagnosis. Offer consultation with a genetic

professional.

Key Point AT is an inherited disorder.

Expert Tips

Describe autosomal recessive inheritance pattern in detail. Be sensitive to parents’ reactions – they may experience

a variety of emotions including guilt, anger, or blame to think they could be carriers for this condition. Emphasize

that they are not responsible for passing this disorder, or any condition, on to their child. Inform parents that all

individuals are carriers of genetic conditions. Make sure parents understand recurrence risk for future pregnancies

and explain that there are options for prenatal testing. Discuss implications for siblings and other relatives.

Tips for explaining autosomal recessive inheritance: Each parent carries one ATM mutation. With each future

pregnancy, there is a 25% chance the child will have AT, a 50% chance the child will be a carrier like the parents,

and a 25% chance that the child will have neither AT nor be a carrier.

Key Point Other family members may be at risk to be carriers.

Expert Tips

Discuss the possibility that other relatives are carriers and include risk numbers. You may wish to use pictures and

diagrams to help explain. Offer consultation with a genetic professional now and/or when results are available.

If the patient is found to have AT through genetic testing, the family will need to hear information about risks to

other relatives again. This is likely to be an extensive discussion, and it is important that the family understands the

chances of being a carrier. Collaborating with a genetic professional may be helpful, as he or she can discuss these

implications in detail and coordinate care for other family members.

Key Point Carriers of ATM gene mutations have an increased risk to develop cancer.

Expert Tips

Emphasize that everyone has some risk for cancer. Discuss absolute risk vs. relative risk and put this risk into

perspective by comparing it with lifetime risks for other conditions. Discuss options for screening and life style

changes to reduce risk. Explain that knowledge of this risk can lead to earlier diagnosis, which is generally

associated with better outcomes.