Anaheim, CA—The speed at which the genetics revolution has propelled forward in oncology has created enormous ramifications and unanticipated challenges, according to Suzanne Mahon, RN, DNSc, AOCN, AGN-BC, CNS, Professor, Division of Hematology/Oncology, Department of Internal Medicine, Saint Louis University, MO.
“We need to think about not only what it does to families from a clinical point of view, but also what it does from a psychological view,” Dr Mahon said at the 2019 Oncology Nursing Society meeting.
Accurate Information Is Key
Patients need accurate information when it comes to their genetics, and the Internet is far from accurate in its presentation of genetic information. Genetics is a subdiscipline in oncology, so that patients and providers should know where to turn for accurate information. Genetics professionals should be able to assist with risk assessment, selection of best testing strategy and laboratory, and options for research studies. They also know how to correctly interpret test results and can provide recommendations for follow-up and coordination of appropriate care for the entire family.
When good pretest genetic counseling is provided to patients, many of the challenges that are involved in managing genetic test results could be squelched, Dr Mahon said.
Dr Mahon schedules a 90-minute appointment for a new consultation. At each new consult, clinical information—such as medical family history, reproductive history, and lifestyle factors—is collected from each patient. Dr Mahon also finds out about patients’ individual factors, such as their motivation for genetic testing, financial considerations, and genetic risk perception. These factors are often much more difficult to glean from patients than the clinical information, she noted, but they are just as important.
Understanding a patient’s family dynamics is a crucial component of genetic testing, because identifying a mutation can reveal sensitive information about family members. And according to Dr Mahon, it is also important for people to understand that the alternative to genetic testing is not testing, and for some families that is a good thing.
Formal Genetic Counseling Is Not Negotiable
Limitations abound when genetics care is provided outside the realm of formal genetic counseling. When an accurate risk assessment for hereditary genetic mutations is not performed, the recommendations for prevention and detection will most likely be wrong.
The goal of genetic risk assessment is to direct patients and their families to the correct screening and prevention services, and to guide decisions about genetic testing. Those with average risk should follow standard prevention recommendations, and those with increased risk should follow modified guidelines, such as starting mammograms before age 40 years.
“If the risk is high enough, and we think there’s a reasonable chance that we would find something in genetic testing, we might offer—and I want you to hear me say this over and over again—offer testing,” she said. “No one should ever feel like they have to do it.”
If a patient has a high enough genetic risk, more aggressive screening or possibly even preventive surgery may be a logical next step, although Dr Mahon urges providers to avoid this unless it is deemed absolutely necessary.
Issues can arise with test and lab selection, and increasing problems are stemming from direct-to-consumer testing, such as 23andMe or Ancestry.com. These types of tests only look at single nucleotide polymorphisms, and do not conduct comprehensive sequencing. “These are little hot spots,” said Dr Mahon. “It’s certainly not genetic testing.”
Sometimes genetic test results are misinterpreted—remember that a genetic variant of unknown significance is not actionable—and significant complications can occur when care is well-managed for the patient but poorly coordinated for the rest of the family.
Inappropriate or inadequate genetic counseling can result in psychosocial distress or other negative outcomes, and this can be a serious concern.
“At the end of the day, this is a human being who has to manage the concept that they have a 60% risk of getting colon cancer, or an elevated risk for developing pancreatic cancer. They have to internalize the fact that they could pass that risk on to their children,” Dr Mahon said. “So, if we don’t help families to manage that from a psychosocial point of view, we’ve done them no favor.”
Although it may result in formal genetic testing, genetic risk assessment is the first step in the genetic testing process. People often ask when a patient should be referred for genetic risk assessment. “My standard answer is—when they’re concerned about their risk, it’s okay to refer,” Dr Mahon said.
But a genetic test result does not guarantee whether a person will or will not get a disease. “It’s only a moderator of risk; that’s the bottom line,” Dr Mahon added. “And families have to walk away and understand that,” she concluded.