Objective:To evaluate the phenotypic spectrum associated with mutations in TBC1D24.Methods:We acquired new clinical, EEG, and neuroimaging data of 11 previously unreported and 37 published patients. TBC1D24 mutations, identified through various sequencing methods, can be found online (http://lovd.nl/TBC1D24).Results:Forty-eight patients were included (28 men, 20 women, average age 21 years) from 30 independent families. Eighteen patients (38%) had myoclonic epilepsies. The other patients carried diagnoses of focal (25%), multifocal (2%), generalized (4%), and unclassified epilepsy (6%), and early-onset epileptic encephalopathy (25%). Most patients had drug-resistant epilepsy. We detail EEG, neuroimaging, developmental, and cognitive features, treatment responsiveness, and physical examination. In silico evaluation revealed 7 different highly conserved motifs, with the most common pathogenic mutation located in the first. Neuronal outgrowth assays showed that some TBC1D24 mutations, associated with the most severe TBC1D24-associated disorders, are not necessarily the most disruptive to this gene function.Conclusions:TBC1D24-related epilepsy syndromes show marked phenotypic pleiotropy, with multisystem involvement and severity spectrum ranging from isolated deafness (not studied here), benign myoclonic epilepsy restricted to childhood with complete seizure control and normal intellect, to early-onset epileptic encephalopathy with severe developmental delay and early death. There is no distinct correlation with mutation type or location yet, but patterns are emerging. Given the phenotypic breadth observed, TBC1D24 mutation screening is indicated in a wide variety of epilepsies. A TBC1D24 consortium was formed to develop further research on this gene and its associated phenotypes.

In our study, almost 80% of the fetuses had an uncomplicated perinatal outcome. FEB was present as the only finding in only 5% of the fetuses with an adverse outcome. A potential association with placental abnormalities and a low prevalence of viral infections was observed. These findings may be of use in counseling parents.

Non-invasive prenatal testing (NIPT), is a prenatal screening test for chromosomal aneuploidies (trisomy 21, trisomy 18, and trisomy 13). While women under 35 years of age with no other risk factors are considered low risk for pregnancies with aneuploidy, most babies with aneuploidy are born to low-risk women. Across the USA, including Wisconsin, many private insurances do not cover initial NIPT for low-risk women, creating a potential financial burden that may limit patient selection of NIPT. Low-risk women with public insurance in Wisconsin are covered for NIPT. This pilot study determined if a difference exists in NIPT uptake based on insurance type in low-risk pregnant women in their first trimester. It also explored genetic counselor perspectives on how insurance coverage for NIPT is addressed with patients. Women with public insurance were 3.43 times more likely to have NIPT as an initial screen for aneuploidy than women with private insurance, indicating that insurance coverage may present a barrier to care. Additionally, analysis showed no evidence of different demographic variables interacting with another to impact outcome after allowing for insurance coverage (X 2 14 = 14.301, p = 0.428). Our data also suggests that more genetic counselors would recommend NIPT to patients if insurance coverage was not a barrier and were more likely to discuss financial risks associated with NIPT when a patient had private insurance. We conclude that some women cannot choose one of the safest and most sensitive prenatal aneuploidy screening tests due to financial barriers put into place by the lack of insurance coverage.

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Prior to COVID‐19, the field of genetic counseling was responding to a workforce shortage in patient‐facing roles through efforts to increase the training capacity within existing programs, as well as development of new programs. These efforts were hindered by the number and capacity of fieldwork training sites. COVID‐19 heightened this barrier with a sudden restriction on student training for an indefinite period of time. The onset of these restrictions highlighted the need to think creatively and, more importantly, collaboratively for ways to not only expand but also maintain fieldwork training capacity. Described here are two different collaborative efforts in response to pandemic‐related cancellations of important curriculum components: 1) the development of clinical simulation experiences and coursework shared between two ACGC accredited training programs; and 2) the creation of a virtual laboratory curriculum between an ACGC accredited training program and a non‐academic laboratory partner. This Professional Issues paper illustrates how collaboration with our academic and non‐academic colleagues benefits students, training programs and non‐academic partners beyond the needs of the initial crisis of a global pandemic.

Noninvasive prenatal screening (NIPS) options for women and expectant couples have expanded with advances in the molecular analysis of circulating cell-free fetal DNA (cffDNA). Current NIPS options include evaluation for fetal aneuploidies, subchromosomal abnormalities, and more recently, monogenic disorders (Liu, Li, Fu, Chung, & Zhang, 2016). With the anticipated introduction of noninvasive prenatal whole genome sequencing (PWGS) into clinical practice, providers and patients may soon be navigating an even broader range of available screening options (Allen Chan et al., 2016;

The impact of practicing as a prenatal genetic counselor while pregnant is unclear given the limited amount of published literature on this issue. To address this gap in knowledge, a total of 215 current and past prenatal genetic counselors provided insights regarding this personal yet professional juncture through completion of an online survey that allowed for both close-ended and open-ended responses. While participants agreed that experiencing pregnancy affected their perspectives and counseling in several ways, this paper focuses on one particular finding-that of the changes in their own obstetric care perceived by genetic counselors while working within the prenatal setting and being pregnant themselves. As a result of these changes, considerations about when to disclose a pregnancy to colleagues along with how to integrate personal and professional needs as a pregnant prenatal genetic counselor surfaced. Additional findings, practice implications, and research recommendations are discussed.

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