According to a story from wired.com, a new genomics marketplace called Helix will soon start selling genetic tests directly to consumers. These tests are the same ones that doctors use, and were developed by PerkinElmer. This comprehensive test measures 59 genes that have been definitively linked to a total of 34 different rare diseases, that, if detected early, can be treated effectively. Some of the conditions on the list include Wilson’s disease and arrhythmogenic right ventricular cardiomyopathy, for example.
In the past, these tests were only ordered by medical professionals when they became suspicious that a patient was displaying possible symptoms. Helix has taken some heat because many of the products on its marketplace are of dubious health significance, but these new tests will represent a much more concrete medical purpose for users. Although the end result could mean that the average joe will have greater access to these genetic tests, some medical professionals are concerned about possible repercussions. After all, interpreting results can be a challenge, and the presence of certain genetic expressions can mean different things to different people in the broader context of their genetic profile.
With that said, a doctor will still need to verify the need for the test before a patient can purchase one. Someone who wants a test will have to fill out a questionnaire discussing their medical history; in cases where a patient is already starting to display symptoms or seems to have a history that suggests a possible genetically related health risk, they will be told to go the conventional route to get a test. Only patients that otherwise appear healthy will be allowed to proceed. On the flip side, it is expected that the tests offered on Helix will be considerably cheaper than going the traditional route; after all, insurance is not required to cover tests unless the patient gets a positive result.
Overall, the new testing option has the potential to expand access to genetic testing for rare diseases to a greater number of people. However, it is unclear just how many people it will help detect these rare diseases; after all, if a person is experiencing symptoms, they will most likely visit their doctor to get a test that way; the new option mostly seems to be for healthy people that want to catch possible rare diseases before they even appear.
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