An update on new genetic counselor research presented at the NSGC annual conference

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

Deepti Plenary at NSGC
NSGC Chair-Elect Deepti Babu gives her plenary talk in Nashville. [NSGC]

Research featured includes thoughts of autistic adults on genetic testing, preimplantation genetic testing of soaring embryos, genetic testing to determine the most appropriate medication for children with attention deficit disorder (ADD), and registries e-doctors that reduce disparities in access to genetic testing.

About half of autistic adults think genetic testing should not be done Autistic adults have serious concerns about genetic testing for the condition, with nearly half saying it should not be done at all, according to the results of a new survey. The findings show that autistic adults see the potential harms of autism genetic testing both for the individual being tested and for the autistic community as a whole, that is, autistic people, their families, researchers and providers. of medical care. Most genetic testing for autism is done during childhood, with the parent or caregiver making the decision.

In the study, researchers distributed a web-based survey via social media platforms to English-speaking autistic adults ages 19 and older and received 461 responses (24 of those surveyed reported having undergone genetic testing).

Parents often perceive the benefits of genetic testing to enable earlier treatment and intervention, understand the cause of their child’s autism, and guide reproductive decision-making. The reality is not so clear. For certain types of autism (when it occurs along with intellectual disability or congenital differences), genetic testing can identify other health problems and guide treatment and management decisions. For isolated autism, the purpose of genetic testing is less clear, and the answer to its benefits varies depending on who you ask.

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

Heather's Plenary at NSGC
Heather Zierhut addresses attendees at the NSGC annual conference in Nashville. [NSGC]

Preimplantation genetic testing of embryos skyrockets

The use of pre-implantation genetic testing as part of in vitro fertilization (IVF) has skyrocketed and is likely related to the increased use of carrier screening and other forms of genetic testing.

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

The study authors found that the use of PGT-M increased by more than 644% over a 17-year period in 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, the PGT-M is done when one or both parents-to-be know of a specific genetic variant that they want to avoid passing on to their children. In the past, this risk was often discovered only after the birth of a sick child. However, this study suggests that the recent growth in preimplantation genetic testing is related to the increased use of carrier screening among expectant parents to uncover hidden risks, as well as the increased use of genetic testing for variants of a single gene that can make an individual more susceptible. common diseases such as cancer and heart disease.

The American College of Obstetrics and Gynecology and the American College of Medical Genetics recommend that every couple receive information about carrier screening before pregnancy.

Pharmacogenetic Testing May Guide Prescribing of ADD/ADHD Medications

Pharmacogenetic (PGx) testing can potentially help determine the most appropriate medication or dosage for a significant number of children with attention deficit disorder (ADD) or attention deficit hyperactivity disorder (ADHD), according to a nearly 500 patients, who found more than half had prescription considerations based on their PGx result.

The 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 CYP2D6 pharmacogene, which is known to metabolize four ADD/ADHD drugs: amphetamine (one of the most commonly prescribed drugs), atomoxetine, dextroamphetamine, and lisdexamfetamine. These variants can affect how a person metabolizes a drug and whether they may be at increased risk of an adverse drug reaction. The results showed that more than half of the patients (54.2%) had medication-related prescription considerations: 3.6% of patients were ultra-extensive metabolizers, 40.4% were intermediate metabolizers, and 10% they were slow metabolizers. Additionally, in a subgroup of children in the study who had one of these four medications listed in their medical record, 66.8% had a PGx result that affected 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 better understand the use of pharmacogenetic testing for themselves or their children,” said Melissa Wong, MS , CGC, lead study author and genetic counselor at Bionano Laboratories, San Diego and Salt Lake City.

NSGC conference attendees.
NSGC conference attendees. [NSGC]

Electronic medical records can increase access to genetic testing services

Turning to electronic medical record (EMR) tools may help reduce disparities in minority patients by improving access to genetic testing, a study of more than 1,000 people suggests.

One of the main barriers to access to genetic testing in general is the initial referral. Removing that barrier by using EMRs to directly identify and contact eligible patients allows them to participate in their care and make their own decisions about whether to proceed. Researchers at 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 a visit from an in-person or telehealth genetic counselor, if he is interested.

“Minority patients face a higher burden of cancer rates, younger ages at diagnosis, more aggressive cancers, and poorer outcomes, and genetic testing plays an important role in these areas, including the provision of targeted treatments and preventive options. said Elizabeth Hogan, BS. , LGC, lead study author, genetic counselor at The MetroHealth System and assistant professor at Case Western Reserve University. “However, studies have shown that patients who meet the same medical guidelines within the same medical institution and are seen by the same providers are less likely to be offered a referral for genetic testing if they are a racial minority. Using the EMR approach helped us successfully reach people who had never been offered the option of getting tested.”

Of those contacted for the study, 99 responded to schedule a genetic counseling visit and 90 completed the visit, which was significantly higher than in 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, reflecting the institution’s overall patient demographics (61 % identified as white, 39.6% identified as a racial minority). Of the 90 patients who responded to the message, 87 chose to undergo genetic testing, and samples were received from 74. Of these, 6 (8%) had a pathogenic variant and 21 (28%) had a variant of uncertain significance.

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