New Initiative in Pennsylvania to Add Genetic Testing to Routine Care

Geisinger Health System is based out of Pennsylvania. They have recently initiated a novel program that has goals to make DNA sequencing a standard part of routine clinical care. Next month they will offer this sequencing to 1,000 patients. But the plan is to expand the program so that all 3 million individuals under their care have access to this testing.

About The Test

So what exactly does the test screen for? And why is it important?

It will look for 77 different gene mutations that are linked to a wide array of conditions. It is based on whole exome sequencing where the 1% of the human genome that gives the body instructions for creating proteins is analyzed. This 1% is where most mutations that can cause disease occur.

The test will be able to let patients know early on whether or not they have a gene mutation associated with conditions such as malignant hyperthermia, familial hypercholesterolemia, or Lynch syndrome. It builds on an initiative called MyCode started in 2007 that enrolled over 200,000 patients, collecting and analyzing DNA to build a research biobank.

Geisinger Health System wants to make genomic sequencing commonplace. Just as they check someone’s cholesterol, they want to check everyone’s genes.

How it Works

The test is simple. All it takes is a saliva or blood sample from the individual.

After the primary care physician receives the result, they take an online education tutorial which helps them to refresh their memory on the condition. Then, the patient, doctor, and sometimes a genetic counselor, meet to discuss the results, prevention, and treatment.

How prevalent are these gene mutations? Approximately 3.5% of individuals who have received the testing thus far have had a genetic variant.

Its important to note that only “actionable mutations” are reported to patients. In other words, patients won’t be told if they have a gene variant for a condition that currently has no treatment, such as Alzheimer’s disease. This is controversial, and Geisinger is currently working on developing a policy for physicians on how they should respond if patients ask for these results as well.

They make it clear that their initiative is different than tests like 23andMe because it ensures that patients are provided the proper consultation with a doctor and an outline of actionable steps for how they should move forward.



Those who advocate for this new program speak to the fact that it could improve outcomes for patients and decrease the financial burdens associated with treatment. Considering that most healthcare costs occur after diagnosis, a genetic test could minimize costs and pain by allowing the patient to take preventative steps.

Geisinger will take care of the financial burden of the sequencing test itself which is estimated to be 500 dollars, as its not something typically covered by insurance companies unless there is already known risk.


Not everyone is excited about this new program.

Some have no qualms about the practice of testing itself but are worried about the feasibility of the testing in practice. They argue that physicians have enough on their plate in their regular appointments. They say, “our plates are already overflowing.”

Additionally, some wonder how much impact it could have. For instance, if someone is found to be more susceptible to heart disease, some contend nothing different would be recommended to the patient than what they probably have already been told- watch your diet and exercise. On the other hand, these test results could be the motivation the patient needs.

Further, some people are worried that physicians will feel pressured to act when it isn’t necessary. For instance, if they see a genetic risk is present they may feel they need to start the patient on a certain medication, order another test, or refer the patient to a specialist. These steps may not be necessary, and could actually be harmful physically and mentally for the patient.

One survey of 500 primary care physicians in NYC showed that-

  • 25% felt prepared and confident in their ability to work with patients who want testing
  • 14% felt confident in their ability to interpret genetic test results
  • 33% had ever ordered a test
  • 33% had ever referred a patient for genetic counseling

It is not that these individuals did not have training to handle these tests, but this training had not given them what they needed to feel confident in their ability.

Clearly, this is a very complex issue that shouldn’t be taken lightly. But it is also an important topic that needs to be discussed, and its good that it’s coming off of the back burner.

You can read more about this new initiative here.

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