Genetic Testing -aHUS Agenda Topic 6

Genetic testing again a topic but this time it is of the patient; and is important for prognosis as well as diagnosis of the patients. However some healthcare providers are reluctant to spend money on it.

 Is it more cost effective, as well as clinically effective, for the management of an aHUS patient’s treatment to undertake genetic testing?

We asked our expert and this what was said:

“Genetic testing can be cost-effective and clinically valuable for the management of an atypical hemolytic uremic syndrome (aHUS) patient’s treatment. Here are some reasons why genetic testing is beneficial:

  1. Personalized Treatment: Genetic testing can identify specific genetic mutations associated with aHUS in individual patients. Knowing the genetic basis of the condition allows for personalized and targeted treatment approaches.
  2. Avoiding Unnecessary Treatment: For patients with known genetic mutations, genetic testing can help avoid unnecessary and costly treatments that may not be effective for their specific form of aHUS.
  3. Family Screening: Identifying genetic mutations allows for family members to undergo genetic testing to determine their risk, which can lead to early intervention and preventive measures. This can be more cost-effective in the long run by reducing the risk of multiple family members developing aHUS.
  4. Research and Clinical Trials: Genetic information is valuable for research and clinical trials. It can help in the development of new treatments and further our understanding of the disease.
  5. Healthcare Resource Allocation: Targeted genetic testing can help allocate healthcare resources more efficiently by focusing treatment on those who are genetically predisposed to aHUS.

However, the cost-effectiveness of genetic testing can vary depending on factors such as the availability of testing, the specific genetic mutations involved, and the healthcare system in place. It’s important for healthcare providers to consider the individual patient’s case, family history, and clinical presentation when determining the need for genetic testing and the potential cost-effectiveness of such testing.”

In the absence of a specific diagnostic and prognostic blood test for aHUS , positive genetic test results can confirm a diagnosis. Furthermore knowing the patient’s genetic predisposition status is important for predicting things like what happens if treatment is stopped or to an aHUS mother in pregnancy.

Genetic tests costs have reduced in real term costs these past ten years. Typically having this valuable information now can cost an insurance company less than $1000. Potential savings from avoiding unnecessary treatment costs can payback quickly for some, from just one vial of complement inhibitor saved. Even a negative test result has an enormous prognostic value. Furthermore an informed patient is empowered in this and future precision medicine decisions.

The answer to this agenda question is “YES” and false economy to avoid genetic testing of aHUS patients.

Article No 623

This series of articles reviewing the current state of knowledge of matters important to aHUS patient began with this article HERE

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