My diagnostic odyssey: The limits of genetic testing

I am on a “diagnostic odyssey.”

That term was unfamiliar to me until I spoke with Joy Larsen Haidle, president of the National Society of Genetic Counselors, whose members help patients determine whether genetic testing for diagnostic purposes makes sense for them.

I have an epileptic condition, but despite repeated visits with specialists over several years, I haven’t yet identified a root cause. I’ve only been able to treat and moderate symptoms with medication, and I’m pursuing genetic testing to see if we can discover how the condition started in the first place. As Larsen Haidle explained, the “diagnostic odyssey” is the journey of patients like me who are trying to find out why they’re sick. But the promise of genetic testing cuts in different ways. It can serve as a hopeful option, provide a breakthrough, or lead to another dead end.

That amounts to a crapshoot for patients like me.

“For patients in that ‘diagnostic odyssey,’ there is definitely value to finding out what is [happening], so they can feel a little bit of power and limit the unknown,” Larsen Haidle told me. But “as smart as we think we have gotten, we cannot identify causes for all things yet.”

Genetic testing has made great strides over the last 20 years, she noted, and it helps plenty of patients, particularly those suffering from some types of cancer.

“I have been a genetic counselor for 20 years. In the span of my career, I have seen genetic testing go from an esoteric event that would benefit a small number of people, to being incorporated into routine oncology care,” she said.

Dr. David Finley, Cigna Healthcare’s National Medical Officer for Enterprise Affordability, agreed. He noted, for example, the huge impact of tests to identify whether women carry BRCA1 or BRCA2 gene mutations (developed by Myriad Genetics and other companies), which identify a high risk of getting breast or ovarian cancer.

“If the test is positive, the chance of getting breast cancer is something like 85%, and ovarian cancer, something like 60%,” Finley told me. “Assuming [targeted patients] get tested at a relatively early age, they have several options for markedly reducing the chance of getting cancer.”

Genetic tests can also help to screen for ailments such as familial polyposis and Lynch syndrome, an inherited genetic condition that can increase your risk of getting colon and other cancers, Finley added. And genetic tests can help in identifying cancer tumor mutations for which tailored treatments can be available.

There are clear limits, however. Finley told me that genetic testing is more of a broad-spectrum tool, with variables and variations that can spot mutations “of unknown significance.” He also said that using genetic testing to screen the general population for thousands of genetic, inherited conditions isn’t a good thing.

One reason: Identifying an illness or condition doesn’t necessarily enable the patient to start treatment. Alzheimer’s is a good example of genetic testing’s limits, Finley said. It can determine whether a person has a predisposition for Alzheimer’s, but there is no treatment or cure. So finding out at an early stage can heighten anxiety and uncertainty.

“Since there is nothing to do about it medically, I am not sure that it is beneficial,” Finley said.

Cigna does cover genetic tests such as the BRCA test because “there is something actionable that you can do about it and it has medical value,” Finley said. The insurer also provides coverage/reimbursement based on a patient’s insurance deductable and co-pay, although patient payments can vary as to whether a laboratory conducting the test contracts with Cigna or not. Similar situations exist with other insurers.

The increased popularity of and demand for genetic tests creates some tension between companies and insurers. Finley said that he sees more genetic tests coming out of “questionable value,” and points out that insurance plans are looking more carefully at the value question, to make sure the test can contribute to, and improve, patient care.

In my case, my genetic counselor and my neurologist (a genetic testing specialist) steered me to a broad test that covered 400 genes. But the cost, after insurance, became prohibitive, so I chose a less comprehensive test from another, more cost-effective company that will evaluate 40 genes.

My expectations are low: The results could provide clues about my epileptic condition; or they could open more questions, or even leave me with nothing new uncovered.

I know the risks, but I must keep trying to find answers. I have to know. oming out of “questionable value,” and points out that insurance plans are looking more carefully at the value question, to make sure the test can contribute to, and improve, patient care.

In my case, my genetic counselor and my neurologist (a genetic testing specialist) steered me to a broad test that covered 400 genes. But the cost, after insurance, became prohibitive, so I chose a less comprehensive test from another, more cost-effective company that will evaluate 40 genes.

My expectations are low: The results could provide clues about my epileptic condition; or they could open more questions, or even leave me with nothing new uncovered.

I know the risks, but I must keep trying to find answers. I have to know.

Mark Hollmer is a veteran journalist who has covered the life sciences industry extensively for more than 12 years. In addition to MassDevice.com, he’s written for publications including the Boston Business Journal, The Gray Sheet, FierceMedicalDevices and FierceDiagnostics. He can be reached at hollmermark@gmail.com.

The opinions expressed in this blog post are the author’s only and do not necessarily reflect those of MassDevice.com or its employees.

The post My diagnostic odyssey: The limits of genetic testing appeared first on MassDevice.

from MassDevice http://ift.tt/1HYbPsO