The Work of Jim Plante and the Complex Issues of Genetic Testing Regarding Disease Risks

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U.S. consumers are increasingly interested in genetic testing for identifying their risk for certain diseases and other health problems. Genetic testing through companies such as Pathway Genomics, founded by Jim Plante, has the potential to make medical care more precise than ever before.

The Knowledge to Make Decisions

However, this type of precision medicine can be challenging for doctors. Some patients are likely to have completed only a little bit of learning on the subject, leading them perhaps to be more optimistic than is warranted.

Others do extensive research and then decide on dramatic preventive measures, such as preventive removal of body parts at higher risk of cancer. Doctors are not always entirely comfortable about these choices, but knowledge from the genetic testing does allow patients to make their own decisions about their bodies. Professional genetic counseling is considered essential so people can understand the complex test results and be sure they are making the right decisions for their own lives.

Genetic Markers for Disease

Health care practitioners must adapt to this trend of patients seeking genetic testing to learn about their medical risks. Often, they find confirmation of a possibility they already suspected, since so many conditions run in families. There are genetic markers for many types of cancer, as well as diabetes, heart disease, dementia and numerous other disorders. Celiac disease, asthma and even chronic depression have genetic markers and, in some individuals, are considered inherited conditions.

Risk Without Certainty

In many cases, the genetic marker is not definitive. For instance, an individual with the marker for early-onset Alzheimer’s disease does not have any confirmation that he or she will develop this form of dementia, only that the risk is higher than that of the general population.

A similar situation is true for Type 1 diabetes. Many people with this genetic mutation never develop diabetes, so researchers assume other factors are integral in who eventually cannot produce insulin and who still can. Since the disease usually appears in early childhood, parents would need to have very young children tested and then also learn all the related factors that can lead to the disease.