Relatively Speaking: An Update on New Research from Genetic Counselors Unveiled at the NSGC Annual Conference

Leaders in genetic counseling gathered together virtually and in-person at Nashville’s Music City Center in November for the National Society of Genetic Counselor’s 41st Annual Conference to present new genetics research and discuss the future of the field.

Research presented includes autistic adult’s thoughts on genetic testing, preimplantation genetic testing of embryos skyrocketing, genetic testing to determine the most appropriate medication for children with attention deficit disorder (ADD), and electronic medical records decreasing disparities in access to genetic testing.

About half of autistic adults think genetic testing shouldn’t be performed Autistic adults have serious concerns about genetic testing for the condition, with nearly half saying it shouldn’t be done at all, according to results of a new survey. The findings show autistic adults see potential harms of genetic testing for autism both for the individual being tested and for the autism community as a whole, meaning autistic people, their family members, researchers, and health care providers. Most genetic testing for autism occurs during childhood, with parents or caregivers making the decision.

In the study, researchers distributed a web-based survey through social media platforms to English-speaking autistic adults aged 19 or older and received 461 responses (24 of the respondents reported having had genetic testing).

Parents often perceive the benefits of genetic testing as enabling earlier treatment and intervention, understanding the cause of autism in their child, and guiding reproductive decision-making. The reality is not so clear cut. For certain types of autism (when it co-occurs with an intellectual disability or congenital differences), genetic testing may identify other health concerns and guide treatment and management decisions. For isolated autism, the purpose of genetic testing is less clear, and the response to its benefits varies depending on who you ask.

The researchers noted the majority of survey respondents did not think that a genetic test would either provide them with more certainty about their diagnosis or increase the educational, medical, or social supports that they received. Additionally, 93% of survey respondents selected identity-first language as their preference, describing themselves as autistic, rather than a person with autism.

Preimplantation genetic testing of embryos skyrockets

The use of preimplantation genetic testing as a part of in vitro fertilization (IVF) has skyrocketed and is likely linked to the increased use of carrier screening and other forms of genetic testing.

The study authors documented a dramatic jump in the number of patients undergoing IVF who had their embryos tested for genetic conditions such as cystic fibrosis or increased susceptibility to cancer at a New York City fertility clinic. Prospective parents concerned about a genetic variant that may adversely affect their child’s health can use IVF along with this form of testing–called PGT-M–to avoid the risk.

The study’s authors found that the use of PGT-M jumped by more than 644% over a 17-year period at the clinic. The use of preimplantation genetic testing increased from 1% in 2004 to 7.44% of all IVF cycles in 2021 at this busy clinic.

Typically, PGT-M is done when one or both prospective parents are aware of a specific genetic variant they want to avoid passing along to their children. In the past, this risk was often discovered only after the birth of a sick child. However, this study suggests that recent growth in preimplantation genetic testing is related to the increased use of carrier screening among prospective parents to uncover hidden risks, as well as the increased use of genetic tests for single-gene variants that can make an individual more susceptible to common diseases such as cancer and heart disease.

The American College of Obstetrics and Gynecology and the American College of Medical Genetics recommend every couple be provided information about carrier screening prior to pregnancy.

Pharmacogenetic testing can guide ADD/ADHD drug prescribing

Pharmacogenetic testing (PGx) can potentially 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.

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 to 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 Melissa Wong, MS, CGC, lead author of the study and genetic counselor at Bionano Laboratories, San Diego and Salt Lake City.

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.

For more information about genetic counselors, visit nsgc.org.

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