The GC Immersive: Patching the pipeline with genetic counseling experiences for all.

Genetic counseling graduate programs largely recommend that prospective applicants shadow or gain exposure to genetic counselors (GC) as a means of developing insight into the profession. However, prospective students have cited this need to shadow genetic counselors as harder to access in comparison to other prerequisites. The GC Immersive (GCI) at Color was created as a no-cost, remote, self-paced professional exploration program designed to provide resources and live interaction with a team of genetic counselors to increase accessibility to GC exposure and enhance the competitiveness of underrepresented GC candidates. The program design and curriculum were developed by a team of certified genetic counselors and a GC student in 2021 and is marketed to those who have one or more identities underrepresented in the GC field. In total, 287 individuals enrolled in the program in the first and second cycles, with 115 providing demographic information. The majority of enrollees identified as an underrepresented minority in GC in one or more identities, with individuals who are ethnic and/or racial minority (70%), first-generation college student (44%), lesbian, gay, transgender, queer, intersex, and/or asexual (LGBTQIA+) (27%), and disabled community (16%) reported as the most common identities. Most participants had never shadowed a GC (55%) prior to this course. Twenty-two percent of enrollees resided outside of the United States, representing 15 different countries. Of the 287 enrolled participants, 21 (7%) have completed the program, with the remaining participants having between 5 and 11 months to complete. All individuals who completed the program reported they felt better prepared to apply for a GC program. The general structure of this program can be replicated by any institution, as the program consists primarily of recorded content. Ongoing effort by genetic counselors is minimal and has the ability to provide GC experience to prospective applicants at great scale.

Results of the Genetic Counselor SARS-CoV-2 Impact Survey from the National Society of Genetic Counselors: Progress and penalty during the COVID-19 pandemic.

The Genetic Counselor SARS-CoV-2 Impact Survey (GCSIS) describes the impact of the pandemic on genetic counselors and genetic counseling services. With this information, the National Society of Genetic Counselors (NSGC) can better: (1) support advocacy and access efforts for genetic counseling services at both federal- and state-level; (2) promote effective billing and reimbursement for genetic counseling services provided via telemedicine; and (3) make decisions about how to best support genetic counselors. The survey was hosted on a novel data collection and analysis platform from LunaDNA and was open to all genetic counselors (n = 5,531 based on professional society membership). Survey response rate was approximately 3.8% (n = 212/5,531), with a demographic distribution broadly representative of the North American genetic counseling field. Genetic counselors remained largely employed, providing genetic counseling services throughout the pandemic, although almost one in five respondents (17%, n = 35/211) reported experiencing some degree of pandemic-related financial hardship. Nearly all respondents (90%, n = 104/115) transitioned, at least in part, to remote work settings, with about half (47%. n = 88/189) reporting restrictions in the care they were able to provide. These shifts came at a cost: existing gaps in Medicare status for genetic counselors and attendant reimbursement concerns led to uncertainty about whether genetic counselors' work will be reimbursed. Outside of work, caregiving responsibilities increased for 34% (n = 74/212) of respondents. The results of the GCSIS amplify the importance of federal- and state-level advocacy efforts for genetic counselors and their employers. They also highlight the impact of broader cultural intransigence on our majority-female profession. During the pandemic, genetic counselors continued to provide care, but without consistent financial support or expectation of reimbursement. The ability to attract and retain talented professionals to the genetic counseling field will hinge on the success of continued advocacy efforts.

Financial barriers in a county genetics clinic: Problems and solutions.

A genetic evaluation may lead to a clinical or molecular diagnosis, which helps clarify prognosis, tailor surveillance protocols based on risks associated with the genetic condition, and aid in assessment of risk to family members. However, individuals of low socioeconomic and/or minority status often have limited access to genetics services, which contributes to healthcare disparities (Journal of Community Genetics, 2018, 9, 233). Our county hospital system, dedicated to providing health care to the underserved, offers a unique opportunity to reduce healthcare inequalities in genetics. This retrospective chart review included 2,304 patients evaluated at an outpatient county hospital genetics clinic between January 1, 2013, and December 31, 2018, during which time genetic testing was recommended for most patients (58.5%) for a total of 1,429 recommended genetic tests. Most tests were obtained through non-hospital financial resources (56.5%), and loss to follow-up during the phlebotomy stage was the most common reason for tests not to be ordered (41.9%) and not to be completed (36.4%). The experience in our clinic suggests that identifying financial avenues, such as commercial laboratory financial assistance programs in addition to county hospital funds, can support obtaining genetic testing and allow healthcare providers to overcome financial barriers to genetic testing.

Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders.

Postsynaptic density (PSD) proteins have been implicated in the pathophysiology of neurodevelopmental and psychiatric disorders. Here, we present detailed clinical and genetic data for 20 patients with likely gene-disrupting mutations in TANC2-whose protein product interacts with multiple PSD proteins. Pediatric patients with disruptive mutations present with autism, intellectual disability, and delayed language and motor development. In addition to a variable degree of epilepsy and facial dysmorphism, we observe a pattern of more complex psychiatric dysfunction or behavioral problems in adult probands or carrier parents. Although this observation requires replication to establish statistical significance, it also suggests that mutations in this gene are associated with a variety of neuropsychiatric disorders consistent with its postsynaptic function. We find that TANC2 is expressed broadly in the human developing brain, especially in excitatory neurons and glial cells, but shows a more restricted pattern in Drosophila glial cells where its disruption affects behavioral outcomes.

A case report of hamartomatous polyposis in an individual with Neurofibromatosis type 1.

Even in well-described genetic syndromes, such as neurofibromatosis type 1, expansion of the phenotype should be considered as a possible explanation for atypical presentations. However, it is critical to complete the evaluation for a potential dual diagnosis, as there could be significant prognostic and management implications.