Information for HHT Families & Patients

When genetic screening is useful but not used – Genetic testing for families with HHT is very important. This article describes the usefulness and under utilization of HHT testing.

Key points include:

  • The most serious complications of HHT are invisible, but can be prevented through early diagnosis and treatment
  • Someone in the family with symptoms of HHT should be tested first to identify the family’s genetic mutation
  • If a familial mutation is found, then genetic testing of relatives can determine who does and does not have HHT
  • Testing of young at-risk children will spare 50% from evaluations and imaging and its radiation while identifying children who need screening and management
  • Genetic testing can be done on a sample of blood or saliva and ordered through primary care doctors, HHT Centers of Excellence, or local genetics clinics
  • Genetic testing is usually covered by insurance
  • Legal protections prohibit genetic discrimination in health insurance and employment, but not life insurance.
Cohen 2005 HHT Cost Comparison – HHT cost savings from genetic testing in Canada and the United States

The two studies above looked at the cost savings of using molecular diagnostic testing for HHT diagnosis compared to conventional clinical screening. In each case the savings were significant, because relatives at risk were not subjected to costly clinical screens, such as MRI and CT scans.

The major differences between the studies can be attributed to the difference in the health care delivery systems in Canada and the United States. In the Canadian study clinicians had access to more family members including extended family, while in the other study clinicians were only able to access family members on the same insurance plan, usually only immediate family. The clinical care plan was slightly different between the two groups, and the cost to perform clinical procedures was different.

However, with these differences the conclusions of the two studies remain the same: molecular diagnostic testing for HHT saves health care dollars. As the sensitivity of the test increases and costs for genetic testing decrease this savings will grow.

General information about HHT

Organizations that support HHT families


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