It’s All In the Genes

With the rise of precision medicine, genetics and genomics are increasingly becoming part of daily clinical practice and health care conversations. In addition to developing practice guidelines for laboratories and clinicians, the American College of Medical Genetics and Genomics (ACMG) recognized the importance of facilitating patient–physician conversations about appropriate care and released its list of Choosing Wisely® recommendations in July.

“We didn’t have to think twice about joining the campaign,” said Kristin Monaghan, PhD, FACMG, ACMG Board member and one of the authors of the ACMG Choosing Wisely list. “It seemed like such a useful way to give patients and providers more information about genetic testing.”

The College’s Laboratory Quality Assurance Committee, Professional Practice and Guidelines Committee and Therapeutics Committee developed a list of 18 tests and procedures that patients and clinicians should question, based on Choosing Wisely’s goal to improve quality and reduce waste. From there, the ACMG Board of Directors selected the final list of five recommendations, focusing on those that would have the greatest impact and were supported by robust evidence.

Monaghan said it was important to highlight overuse and misuse in the field of genetics and genomics, because it is complex and impacts all medical specialties.

“I think it’s helpful for all health care providers to be familiar with the ACMG recommendations,” she said. “Genetics is a very fast moving field and we are learning more every day.”

Three of the recommendations focus on specific genetic tests, emphasizing that some tests may not provide conclusive results in certain situations. For example, Monaghan said APOE genetic testing is often misused for detecting the risk of later onset Alzheimer’s disease.

“The test is for one very common genetic variation, which was reported to be linked to the disease, but just because a patient has the variation doesn’t mean they will develop Alzheimer’s,” she said. “In addition, individuals without the variant can develop Alzheimer’s disease. The test doesn’t provide a high level of clinical utility. There are other tests available to determine risk for Alzheimer’s, particularly if there is a family history of the disease or an individual has Alzheimer’s disease that developed before age 60.”

Another recommendation focuses on hereditary hemochromatosis, a common genetic disorder that causes too much iron to be absorbed by the body, which can lead to liver disease, heart disease and other complications. The early symptoms of iron overload can be nonspecific, but certain complications can be prevented if the iron overload is discovered early.

“We recommend that prior to the test—which can be helpful—it be determined that the patient has iron overload first,” Monaghan said. If there is a family history of hereditary hemochromatosis and the cause is known, then HFE genetic testing can help determine the risk for future iron overload.

If patients don’t remember whether they had a specific genetic test—since most are done through a simple blood draw or cheek swab—or if they change doctors, they might be at risk for unnecessarily undergoing the same test more than once. So, ACMG recommends that patients and physicians discuss and review the results of genetic testing, Monaghan said. In addition, many laboratories will send the patient a copy of the genetic test report, which can be shared with family members and physicians.  ACMG also addresses the importance of informed consent during discussions about genetic tests, particularly as it relates to secondary findings that may be identified through tests.

“Anytime a physician orders a test, they should inform the patient about what the test is and potential harms, limitations and implications for the patient and their family members,” Monaghan said. “It’s an important conversation to have prior to having the blood drawn.”