April 7, 2017

When science and regulation don't talk to each other

An Evidence Framework for Genetic Testing

National Academy of Sciences and Food and Drug Administration don't talk to each other. At the same time that NASEM publishes a report on how to assess genetic testingFDA clears genetic testing for 23andme without any precise assessment, for the following tests:

  • Parkinson’s disease, a nervous system disorder impacting movement
  • Late-onset Alzheimer’s disease, a progressive brain disorder that destroys memory and thinking skills
  • Celiac disease, a disorder resulting in the inability to digest gluten
  • Alpha-1 antitrypsin deficiency, a disorder that raises the risk of lung and liver disease
  • Early-onset primary dystonia, a movement disorder involving involuntary muscle contractions and other uncontrolled movements
  • Factor XI deficiency, a blood clotting disorder
  • Gaucher disease type 1, an organ and tissue disorder
  • Glucose-6-Phosphate Dehydrogenase deficiency, also known as G6PD, a red blood cell condition
  • Hereditary hemochromatosis, an iron overload disorder
  • Hereditary thrombophilia, a blood clot disorder
Meanwhile NASEM recommends a decision framework for the use of genetic tests in clinical care:
1. Define genetic test scenarios on the basis of the clinical setting, the purpose of the test, the population, the outcomes of interest, and comparablealternative methods.
2. For each genetic test scenario, conduct an initial structured assessment to determine whether the test should be covered, denied, or subject to additional evaluation.
3. Conduct or support evidence-based systematic reviews for genetic test scenarios that require additional evaluation.
4. Conduct or support a structured decision process to produce clinical guidance for a genetic test scenario.
5. Publicly share resulting decisions and justification about evaluated genetic test scenarios, and retain decisions in a repository.
6. Implement timely review and revision of decisions on the basis of new data.
7. Identify evidence gaps to be addressed by research.
If you want further details, check Mathew Herper blog. My first impression after reading it is that this move, paves the way for recreational genetic testing. An approach that should be completely banned by legislation. If FDA has done so, let's wait for what it may happen in Europe where the regulator is still planning a change of the regulation in 2022!!! Meanwhile, the door is open (to the worst for citizens).