Discuss goals, limitations with patients seeking direct-to-consumer genetic tests

Humans are born with a risk for developing, at some point in their life, one of more than 40 disorders that clinicians have identified to have some connection with genetics, according to the National Human Genome Research Institute.

Approximately 10% of all breast cancer and 25% of ovarian cancer cases are hereditary, and one in 12 people of African descent carry a sickle cell gene that puts them at an increased risk for sickle cell anemia.

Individuals who feel they may be predisposed to a genetic disorder may undergo genetic tests within a clinical setting to analyze their possible future risks for developing a certain disorder.

There are concerns with access and costs associated with genetic testing, however.

The cost of genetic testing can range from less than $100 to more than $2,000, depending on the nature and complexity of the test, according to the U.S. National Library of Medicine.

As a result, direct-to-consumer genetic testing has emerged as a new means of obtaining genetic tests outside of a traditional clinical setting.

According to Sancy Leachman, MD, PhD, director of the melanoma research program at Oregon Health & Science University’s Knight Cancer Institute, many primary care physicians need to be ready for the possible questions that patients may bring to them about direct-to-consumer genetic testing.

“What typically happens is the physician hasn’t been asked [if a patient should undergo testing],” Leachman told Healio Family Medicine. “The patient comes in and brings with them a whole bunch of test results, and they likely didn’t ask their doctor if they should have the test.”

Or, as Leachman said, a patient who has not yet participated in a direct-to-consumer genetic test might walk into a physician’s office and ask the doctor about their thoughts on the process.

“The first response of a PCP sometimes — especially if they’re not familiar with what the tests are and the different companies that conduct them — is, ‘Oh my gosh, don’t tell me that they’re going to bring me these results and I’m going to have to figure out what it means.”

The reason for this response, Leachman said, is because if a physician is unaware of what test a patient underwent, it could take them quite some time to figure out the results.

Ask patients ‘Why?’

Leachman said it is important for primary care physicians to have a conversation with their patients and ask them some ‘real questions’ as to why they are having a direct-to-consumer genetic test done and what they hope to accomplish.

“Because many people who are thinking about the test, think that it will tell them if they are going to get breast cancer, or if they are going to get ovarian cancer, or what their percent chance of getting a disease is, or what do I do if they are a high-risk person,” she said. “And that’s not what these tests tell you.”

A physician needs to explain to their patients that the tests will give something of a prediction as to what they may be at risk for getting more than the average population, but that the tests do not take into consideration environmental factors nor the aging process.

“It may help to give the patient an inkling at things they’re at risk for and to help them know what to look out for maybe a little more closely, but it’s not going to give them a definitive answer.”

Leachman urged physicians to explain to patients that many of the companies that conduct the tests do not have personnel to help interpret the results.

“They may get the results back, but it doesn’t really help them understand them,” she said. “If they don’t know what they mean, it can take a person quite some time – even a physician – to really help interpret those tests.”

If a physician is unable to read the results, a patient may need to consult with a genetic counselor, which may come at the expense of the patient because most insurance plans do not cover the cost of a genetic counselor unless the patient has a strong family history of a disease, she noted.

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Ownership of DNA samples

One of the most important things physicians should consult with their patients mulling a direct-to-consumer genetic test is what the individual is signing away when supplying their DNA to a company, she said.

“Does that sample still belong to them? Or does the company then own it and all the patient gets back is the results?” she said. “Because if the company owns it, then the company can do whatever it wants to do with the sample afterward. I think one of the things that’s really important is understanding if that company is ever going to sell their information or sell their DNA. Because if it doesn’t belong to the patient, if the patient is relinquishing the right by having the test, they’re relinquishing their rights to the ownership of that material. Then the company could potentially plan to sell that information – either their data in a deidentified way or sell their material to another company.”

Any individual who is considering taking part in a direct-to-consumer genetic test needs to be aware of the fine print on their consent forms, Leachman said.

“I don’t think that the privacy concerns should override the push to make this a successful technology to help humanity either,” she said. “It’s a balance.”

Personal experience with testing

Leachman said as a part of a personal experiment, she sent her DNA in to five different companies to run tests on her genetics.

“I wanted to see what the accuracy of the tests were,” she said. “Do they come up with the same stuff, or do they not and what happens?”

Each company returned similar results, Leachman said. However, each company offered different interpretations of the data.

“One of the things that happened with me is that I found out that I was a hemochromatosis carrier,” she said. “The thing [most] didn’t talk to me about was ... that if you’re a carrier and you’re a female, there’s actually maybe an advantage to that. Because when you have a menstrual cycle and you lose blood, this causes a buildup of iron, so you don’t have as high of a chance as being anemic.”

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Enhancing medical recommendation compliance

When a person receives results that explain the genetic tests show that an individual is at an increased risk for developing a condition such as melanoma, the individual often begins to behave in a way that is more compliant with medical recommendations, Leachman noted.

“Once they get the results, they say, ‘I guess I better do my self-exam once a month,’ or ‘I guess I better wear my sunscreen,’ ‘I guess I better not go to that tanning salon,’ ‘I guess I should get to the doctor and have a skin exam once a year.’ Before that, even though they knew that their family was at high risk, because it wasn’t [directly associated] with them, it’s that act of giving people individualized, personalized information that helps them understand that this can happen to them.”

The power these tests give people within the confines of their home is exciting, Leachman mentioned. The tests offer an opportunity to improve access to everyone, even if they are hundreds of miles away from a dedicated testing lab.

The problem, however, is that the tests do not necessarily improve access to those who can immediately interpret results.

“One of the things that we’re going to really need to get to the bottom of is, how much responsibility does the company have for providing accurate and effective education and communication about the results.” – by Ryan McDonald

References:

https://www.genome.gov/10001204/specific-genetic-disorders/

https://ghr.nlm.nih.gov/primer/testing/directtoconsumer

https://ghr.nlm.nih.gov/primer/testing/costresults

http://www.hematology.org/Patients/Anemia/Sickle-Cell.aspx

Disclosure: Leachman reports no relevant financial disclosures.