Research Demonstrates Genetic Counselors’ Role in Patient Care
NASHVILLE, Tenn. – Nov. 16, 2022 – Genetic testing may help determine the most appropriate medication for children with attention deficit disorder (ADD), electronic medical records can help decrease disparities in access to genetic testing, most people offered genetic testing at work are not familiar with discrimination protections and genetic counselors play a vital role in a national effort to build a diverse health database. These are among the research findings being presented at the National Society of Genetic Counselors (NSGC) 41st Annual Conference.
Pharmacogenetic Testing Can Guide ADD/ADHD Drug Prescribing
Pharmacogenetic testing (PGx) potentially can help determine the most appropriate dose or medication for a significant number of children with attention deficit disorder (ADD) or attention deficit hyperactivity disorder (ADHD), according to a study of nearly 500 patients, which found more than half had prescribing considerations based on their PGx result.
ADHD is the most commonly diagnosed behavioral disorder in children, affecting nearly 1 in 10 in the United States.
“We believe that PGx testing has the potential to help children with ADD or ADHD by providing guidance to their health care providers selecting and dosing medications, possibly reducing the trial-and-error method of prescribing,” said Melissa Wong, MS, CGC, lead author of the study and genetic counselor at Bionano Laboratories, San Diego and Salt Lake City. “This could potentially reduce the risk of adverse events and avoid lost time on treatments that aren’t working as well as shorten the time to achieving successful management of the symptoms.”
Researchers studied the results of 448 children with ADD or ADHD who had undergone pharmacogenetic testing at Bionano Laboratories (formerly known as Lineagen). This analysis examined variants in the pharmacogene CYP2D6, which is known metabolize four ADD/ADHD medications: amphetamine (one of the most commonly prescribed medications), atomoxetine, dextroamphetamine and lisdexamfetamine. These variants can affect how a person metabolizes a drug and if they may have an increased risk of an adverse reaction to a drug. The results showed that more than half of patients (54.2%) had prescribing considerations related to the drugs: 3.6% of patients were ultrarapid metabolizers, 40.4% were intermediate metabolizers and 10% were slow metabolizers. Additionally, in a subgroup of children in the study who had one of these four medications listed on their medical record, 66.8% had a PGx result that impacted prescribing considerations for the medication prescribed (currently or previously).
“Pre- and post-test discussion with a genetic counselor can be a great way to help people set realistic expectations and have a greater understanding of the use of pharmacogenetic testing for themselves or their children,” said Wong.
Electronic Medical Records Can Increase Access to Genetic Testing Services
Turning to electronic medical record (EMR) tools can help reduce disparities in minority patients by improving access to genetic testing, suggests a study of more than 1,000 individuals.
One of the major barriers to genetic testing access overall is the initial referral. Eliminating that barrier by using the EMR to identify and directly contact eligible patients allows them to participate in their care and make their own decisions whether to proceed. Researchers from The MetroHealth System, a safety net hospital in Cleveland, sent a message through the patient portal (MyChart) to 1,187 patients who qualified for genetic testing services based on a reported family history of pancreatic cancer in a first- or second-degree relative. The message provided information on how to schedule an in-person or telehealth genetic counselor visit, if interested.
“Minority patients face a higher burden of cancer rates, younger ages of diagnosis, more aggressive types of cancer and poorer outcomes, and genetic testing plays an important role in these areas, including providing targeted treatments and preventative options,” said Elizabeth Hogan, BS, LGC, lead author of the study, genetic counselor at The MetroHealth System, and assistant professor at Case Western Reserve University. “Yet studies have shown patients who meet the same medical guidelines within the same medical institution and seen by the same providers are less likely to be offered a genetic testing referral if they are a racial minority. Using the EMR approach helped us successfully reach individuals who have never been offered the option of testing.”
Of those contacted for the study, 99 responded to schedule a genetic counseling visit, and 90 completed the visit, which was significantly higher than previous years: 12 patients with a family history of pancreatic cancer had scheduled a genetic counseling visit in 2019 and 21 had done so in 2021. Among those who responded to the MyChart message, 71% identified as white and 29% identified as a racial minority, which reflects the institution’s overall patient demographics (61% identifying as white, 39.6% identifying as a racial minority). Of the 90 patients who responded to the message, 87 elected to have genetic testing, and samples were received for 74. Of those, six (8%) had a pathogenic variant and 21 (28%) had a variant of uncertain significance.
Many people are concerned about the cost of genetic testing and genetic counselors are valuable resources that can help navigate those concerns, including accessing reduced-cost or no-cost genetic testing options, the authors note.
“Genetic counselors are uniquely positioned to help patients navigate barriers and get testing completed affordably and appropriately, but they traditionally have relied on patients being referred by their providers,” said Hogan. “One significant limitation of our study is that most MyChart services are currently limited to English, but many patients are non-English speaking. We hope that as MyChart expands its language services, we can better reach non-English speaking patients via this outreach method.”
Workplace Genetic Testing Survey Shows Most Workers Aren’t Familiar with GINA
Employer-sponsored wellness programs have emerged as a new avenue for health-related genetic testing outside of the clinic, but public awareness of the federal Genetic Information Nondiscrimination Act (GINA) remains low 15 years after its introduction, suggests a national survey of employed adults.
GINA prohibits using genetic information in making employment decisions, restricts employers from requesting, requiring or purchasing genetic information and strictly limits the disclosure of genetic information. However, the protections offered by GINA do not cover individuals with genetic conditions for which they have been or could be reasonably diagnosed with the disease in question, employers with fewer than 15 employees, members of the military or people seeking life, disability or long-term care insurance.
The national survey included 2,000 employed U.S. adults, 62.6% of whom said they were “not at all familiar” with GINA. Many presumed GINA provided more legal protections against genetic discrimination than it does, with the average score being 35% on the 13 objective GINA knowledge items.
“Our results suggest that when participants are more informed about GINA, they are more likely to be interested in workplace genetic testing and have more positive attitudes about undergoing genetic testing offered by their employer,” said Lindsay Willard, MS, CGC, lead author of the study and genetic counselor at the ProMedica Cancer Institute Genetics Program, Toledo, Ohio. “Most research about GINA knowledge has been limited, focusing on a specific population of individuals and lacking in-depth assessments about GINA knowledge. Our research explores employee perspectives and beliefs about workplace genetic testing and lays the foundation for further research to more comprehensively assess knowledge and beliefs about offering genetic testing in the workplace.”
Although several large corporations are known to have offered workplace genetic testing, the total number of employers in the U.S. offering this type of testing is currently unknown. This is an area for further research (https://insightatwork.org/).
Genetic Counselors Provide Non-Clinical Genetic Results to All of Us Participants
Genetic counselors can help people understand their non-clinical genetic results, such as about their ancestry, suggests a study focusing on the All of Us Genetic Counseling Resource Call Center.
The National Institutes of Health All of Us Research Program aims to gather health data from 1 million or more people in the United States, focusing on the intersection of biology, environment and lifestyle. More than 80% of All of Us participants come from communities that are historically underrepresented in biomedical research, including racial and ethnic minorities, sexual and gender minorities and other groups. Participants provide samples of blood, urine and/or saliva for lab and DNA tests, can share their electronic health record and provide data from electronic surveys.
Of the 118,474 eligible participants between November 2020 and April 2022, 81,131 (68%) chose to view their genetic ancestry results. The All of Us Genetic Counseling Resource Call Center received 286 inquiries (.4%) via phone, email or chat function from participants who wanted help understanding their ancestry results or gaining clarity on an unexpected result. For example, 40 (13.9%) said that their results differed from what they expected. Additionally, 51 (17.8%) asked when health-related genetic results would be available. Those results will begin to be available at the end of this year.
“While the uptake of genetic counseling services regarding non-clinical DNA results was low, those who did seek genetic counseling support learned more about how to interpret their results and other complex topics such as unexpected results, which genetic counselors are well suited to discuss,” said Kelly Tangney, MS, CGC, lead author of the study, head of genetic counseling services at Color Health, San Francisco, and lead genetic counselor for the All of Us Genetic Counseling Resource. “Based on the fact that nearly one in 10 participants who contacted us asked about receiving health-related genetic results, we expect high engagement with genetic counselors once that information is available to them.”
All of Us Research Program genetic counselors provide free telephone appointments to participants in English, Spanish or more than 2,000 other languages using medical interpreters and can answer questions about the interpretation of test results, explain the limitations of genetic test results, guide participants on opportunities for follow-up, and acknowledge, discuss and support participants’ psychosocial needs, concerns, cultural beliefs and lived experiences.
Note to editors: Media interested in viewing study abstracts, interviewing authors and/or attending sessions at the NSGC Annual Conference can contact NSGC’s PR team at 630-344-2009 or NSGCPR@pcipr.com.
About the National Society of Genetic Counselors
NSGC is the leading voice, authority and advocate for the genetic counseling profession. Membership represents 5,000 masters-level health professionals, who are committed to ensuring that the public has access to genetic counseling and genetic testing. For more information, visit www.nsgc.org.
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