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Updated: Putting Genetic Science to Work for Patients

It’s been 20 years since completion of the historic Human Genome Project that provided unprecedented ability to read nature’s genetic blueprint for humans. The health care community has been putting that knowledge to work for patients ever since. 

This is especially true in the expanding field of genetic testing, which looks for changes, sometimes called mutations or variants, in a patient’s DNA.  

Continued research and clinical experience have demonstrated the value of genetic testing in the diagnosis of many serious diseases. These include some vision conditions and movement disorders, certain cancers and especially rare diseases such as Huntington’s disease. Genetic testing can dictate the most appropriate course of treatment, too.  

Benefits and Barriers 

Genetic testing offers numerous benefits, including providing the ability to: 

  • learn whether a genetic condition runs in a family before symptoms show 
  • evaluate whether an unborn baby might have a genetic condition 
  • diagnose a genetic condition if symptoms are present 
  • understand and guide prevention or treatment plans. 

Testing is typically complemented by guidance from a genetic counselor, who has traditional counseling skills, as well as a specific education in assessing the nuances of genetics and genomic medicine. Together, genetic testing and counseling can help providers and patients make informed choices and potentially accelerate the decision-making process, which is critical for many patients with rare or other serious diseases. 

As the ability to genetic test has expanded, though, barriers to its use have come into sharper focus, too. Chief among those barriers are:  

  • Shortage of qualified professionals to interpret genetic tests and provide genetic counseling 
  • Reluctance of some insurers to provide adequate coverage for the testing, counseling or subsequent treatment 
  • Limited awareness of testing options from patients and providers. 

Lingering anxiety among patients about being discriminated against because of genetic testing results may also hinder use of the tool. However, some of these barriers could be lowered through greater understanding of the process, its uses and patient protections.  

Confidentiality, Costs & Coverage 

The American Medical Association’s confidentiality standards apply to genetic testing and the privacy of that information is also protected by numerous federal and state laws. But there are still gaps that could allow for patient discrimination. Addressing protections not covered by current law, like life insurance, will be important in ensuring appropriate uptake.  

Genetic testing costs vary from as little as $100 to several thousands of dollars, depending on the complexity of the test. And, like many other diagnostic tools, insurance coverage is inconsistent. 

The Access to Genetic Counselor Services Act would extend coverage from only counseling provided by a doctor to counseling provided by a counselor. Greater coverage could help ease counselor shortages and also promote greater use, which could ultimately lower health care costs by connecting patients to the right treatment earlier. 

The number of genetic tests has expanded rapidly. Today, more than 77,000 genetic tests are available. Having them is one thing, but ensuring patients and families are educated about their benefits and can access them is another matter entirely. Advocates are working to increase awareness, meanwhile policymakers would do well to support policies that will encourage optimal use. 

The link to the Access to Genetic Counselor Services Act has been updated to reflect reintroduced legislation. This blog was originally published on April 28, 2023.

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