The majority of parents of children undergoing genetic testing report preference for earlier genetic counseling appointments.

In the Indiana University Health (IUH) Medical Genetics clinic, certified genetic counselors disclose genetic test results to patients by telephone. The wait-time between a result call-out and a follow-up appointment can vary from weeks to months depending on the medical geneticist's availability. Understanding the experiences that families face during these waiting periods can inform the field regarding what clinical improvements can be made to enhance patients' experiences. Our study explored three topics: the effects of wait-times on parents or patients between a result disclosure and medical genetics follow-up appointment, their anxiety levels during those wait-times, and suggestions for improving parents' and patients' experiences with genetics clinics. Patients or parents who were over 18 years old, who received an initial result call-out between May 2020 and September 2022 prior to a medical genetics follow-up appointment, and who had a diagnostic or a variant of uncertain significance (VUS) genetic test result were recruited for study participation. Individuals were surveyed on their diagnosis, wait-time following result disclosure, feelings during the wait-time, and preferences for result disclosures. The results showed that length of wait-time after a result call-out was not associated with increased anxiety; however, a background in genetics and support group involvement were associated with increased anxiety. The majority of respondents reported that if a genetic counseling-only appointment could occur closer to the time of results call-out, they would prefer to have a genetic counseling-only appointment with a second appointment for medical management with a geneticist later (58.1%). Based on these results, medical genetics clinics should consider implementing genetic counseling-only appointments to reduce wait-times for follow-up appointments.

Genetic counseling program remediation practices for students underperforming in clinical skills: An exploratory study.

Program-level clinical remediation in genetic counseling training programs aims to help students who are underperforming gain clinical skills to successfully manage clinical counseling sessions with patients. Student remediation often requires intervention, including discussions with program leadership and/or a formal remediation plan through the program. This study surveyed genetic counseling program leaders to explore the remediation landscape by identifying skills in which students underperformed, program remediation activities to improve skills, and remediation outcomes. Thirteen participants indicated their program required at least one student to complete program-level clinical remediation during the last 10 years. Eight of the 13 programs (61.5%) required at least one student to participate in clinical remediation for underperformance in professionalism, seven (53.8%) for underperformance in educating patients, six (46.2%) for underperformance in critical thinking, and two (15.4%) for underperformance in demonstrating empathy. Nineteen students were remediated for underperformance in critical thinking. Of those 19 students, one student (5.2%) was dismissed from the training program, and five students (26.3%) chose to withdraw from their program. One of 13 (7.7%) students remediated for underperformance in educating patients and one of 11 (9.1%) students remediated for underperformance in professionalism chose to withdraw from their programs. All students remediated for underperformance in demonstrating empathy successfully completed program-level clinical remediation and graduated. The most frequently endorsed factor positively associated with remediation success was completion of additional in-person patient encounters. The most frequent barrier was a student's poor mental health. Participants most frequently endorsed identification of resources for specific areas of remediation to improve their programs' efficacy in clinical remediation practices. This exploratory study provides valuable information describing clinical skills that require remediation in genetic counseling graduate training, the remediation practices utilized by training programs, and resources that may increase remediation success.

Factors that influence genetic counselors' participation in research.

Genetic counselors have skills and expertise in genetics and patient care that make them an asset to research and research teams. However, the National Society of Genetic Counselors (NSGC) found in 2020 that more than half of practicing genetic counselors do not participate in research activities. Information describing factors that influence their research participation is lacking in the literature. This study ascertained genetic counselors' workplace and graduate training experiences to provide insight into factors that increase or decrease participation in research activities. A survey was distributed through the NSGC Student Research Survey Program. Practicing genetic counselors that graduated in or before 2020 were eligible to participate. The survey included questions about demographics, implementation of student research projects, research-specific resources in their graduate programs, perceived barriers and motivations, and current research activities. Interestingly, the majority of respondents participated in research activities between 2017 and 2021; the most common activities included: recognizing a gap(s) in knowledge (68%) and presenting an abstract or poster (64%). Factors that most significantly influenced genetic counselors' research participation included their interest in research (p = 0.0037), their motivation to do research (p = 0.0014), and their perceived intimidation by the research process (p < 0.001). These results provide insight into solutions for the workplace and graduate programs that could increase genetic counselors' research participation.

An investigation of preceptors' perceptions of behavioral elements of "professionalism" among genetic counseling students.

Professionalism in health care is a loosely defined but increasingly studied concept. In genetic counseling, "professional development" expectations for entry-level genetic counselors are described in the "Practice-Based Competencies for Genetic Counselors," but the teaching and evaluation of "professionalism" among genetic counseling students is relatively unexplored. This study investigated program leaders' and clinical supervisors' perceptions of professionalism demonstrated by genetic counseling graduate students to learn about their associated strengths and lapses. Members of program leadership and clinical supervisors at Accreditation Council for Genetic Counseling (ACGC) accredited genetic counseling graduate programs in the United States and Canada were surveyed regarding their observations of genetic counseling students for the years 2017-2019 regarding four domains of professional behavior: integrity, accountability/conscientiousness, teamwork, and patient care, with the Merriam-Webster definition of each behavior provided for each domain. Participants also provided open-text descriptions. Descriptive results showed that the 263 participants found all facets of these professional behaviors to be essential. Patient care had the highest importance and was the domain with the most strengths observed among genetic counseling students. Lapses in professional behavior were identified for self-awareness, time management, and thoroughness. Free responses noted that suggestions or strategies for education about professional behavior from ACGC may improve the professional behavior of genetic counseling students and in turn, genetic counselors. Participants voiced the importance of consideration of diverse professional and cultural backgrounds in setting the expectations for professional behavior among genetic counseling students and genetic counselors so that "professionalism" in genetic counseling is not defined through a White lens. Further investigation into challenges that genetic counseling students face regarding professional behavior during their graduate training and strategies for education about these behaviors will aid in the growth and improvement of the training of genetic counselors. Given the sensitive nature of this topic, portions of this discussion may be triggering for some readers.

Diversity training experiences and factors associated with implicit racial bias among recent genetic counselor graduates of accredited programs in the United States and Canada.

Implicit racial bias in healthcare settings can impact delivery of patient care. Exploration of this bias is necessary to improve patient experiences. We sought to understand implicit racial bias among graduates of accredited genetic counseling programs in the United States and Canada in the class of 2020 as they enter the genetics workforce and assess how this bias is associated with training and life experiences. Implicit racial bias was quantified through use of the Black-White Implicit Association Test (BW-IAT). Participants also completed an online survey focused on didactic and clinical training and personal experiences with diverse populations. Participants (n = 100) were majority White (88%), and 44% demonstrated an implicit bias favoring White individuals. Respondents reported a lack of interaction with Black healthcare professionals during their training. A concerning proportion (38%) reported experiencing or witnessing racial insensitivity perpetrated by genetic counselors or physicians in supervisory roles. Graduates reported diversity coursework as significantly less effective overall than other general genetic counseling coursework. This study reveals prevalence of implicit racial bias among genetic counselor graduates, lack of exposure to diverse populations within and outside of graduate training, and concerns regarding racial insensitivity and effectiveness of didactic and clinical genetic counseling training. Employers and program directors should implement revisions to ongoing training and graduate curriculum with consideration of these findings.

Positive and negative professionalism experiences of genetic counseling students in the United States and Canada.

Many aspects of genetic counseling training programs have been examined over the years. However, no study has explored professional or unprofessional behaviors genetic counseling graduate students experience during their training, and how these behaviors influence satisfaction with their training. This exploratory study examined students' experiences with program leaders, instructors, supervisors, and other trainees. Specific experiences included actions of favoritism, bias, negativity, abuse of power, and examples of positive role modeling. A survey was sent to all members of the National Society of Genetic Counselors and program directors in order to reach graduates of Accreditation Council for Genetic Counseling (ACGC)-accredited programs from 2015-2019 who were eligible to participate. Responses to questions relating to demographics, satisfaction with graduate education, behaviors experienced or seen during graduate school, and reporting of inappropriate behaviors were collected and analyzed. Results demonstrated that 95% of the genetic counseling graduates were highly satisfied with their graduate education and those who experienced inappropriate behaviors during their training were somewhat less satisfied (p = .04). Individuals who felt more prepared by their graduate education were more satisfied with their graduate education (p < .01). Being publicly embarrassed or humiliated, being made to feel like a burden in clinic, or being subjected to negative or offensive behavior based on their personal beliefs or personal characteristics (excluding areas of gender, race/ethnicity, or sexual orientation) were all negatively associated with satisfaction (all p < .04). We conclude that this survey could serve as a "Genetic Counseling Training Experiences Assessment" which could be incorporated into annual evaluations required by the ACGC. Implementation of this assessment would enhance the current evaluations of genetic counseling training programs and provide important information regarding student experiences during their training.

An apparent new syndrome of extreme short stature, microcephaly, dysmorphic faces, intellectual disability, and a bone dysplasia of unknown etiology.

We report on a 26-year-old male with extreme short stature, microcephaly, macroglossia, other dysmorphic features, severe intellectual disability, and a bone dysplasia. The patient had an extensive genetic and biochemical evaluation that was all normal or noninformative. Recently, the proband died following a period of not eating. He likely had a previously undescribed syndrome of unknown etiology.

Genetic Counselor Workforce Issues: a Survey of Genetic Counselors Licensed in the State of Indiana.

The aims of this study were to document movement of genetic counselors (GCs) out of clinical positions and identify factors that might help employers attract and retain clinical GCs. A confidential on-line survey of GCs ever licensed in the state of Indiana was conducted. Of the 46 respondents, most provide direct patient care (69.6 %), have worked in their current position for 5 years or less (72.1 %), and are experienced genetic counselors, having graduated between 6 and 15 years ago (43.5 %). One-third (32.6 %) reported thinking about leaving their current position at least monthly. GCs were more likely to think about leaving their current position when they provided direct patient care (p = 0.04) and worked in a hospital/clinic setting (p = 0.01). Among the 18 respondents that changed jobs in the past two years, 55.6 % currently work in a laboratory/industry setting and 44.4 % provide direct patient care, compared to 8 % of those in a stable position (N = 25) who work in a laboratory/industry setting (p < 0.01) and 88 % who provide direct patient care (p < 0.01). Genetic counselors who have changed jobs within the past 2 years were more satisfied with the possibility for advancement (p = 0.01), the recognition for work they do (p = 0.03) and feeling value from the organization (p = 0.04) in their current positions than those who have not changed jobs. Salary and flexibility were most often reported as reasons for changing jobs. This is the first documentation of the movement of GCs out of clinical roles into industry positions. This changing landscape may impact the access to clinical services and the training of genetic counseling students. This data will provide employers with data to help attract and retain GCs in clinical roles.

An infant with large fontanelles, aplasia cutis congenita, tessier facial cleft, polydactyly inversus, and toe syndactyly: a previously undescribed syndrome?

We report on a 5-month-old female with large and widely spaced anterior and posterior fontanelles, aplasia cutis congenita, Tessier 3 oblique facial cleft, polydactyly, and syndactyly of toes. The polydactyly is unusual as an accessory finger is attached to the left fifth finger with mirrored, end-to-end fusion. We are naming this anomaly "polydactyly inversus." The infant appears to have a previously unreported syndrome of unknown cause.

A case of Robin sequence, microgastria, radiohumeral synostosis, femoral deficiency, and other unusual findings: a newly recognized syndrome?

In this report, we describe an 8-year-old male with Robin sequence, bilateral radiohumeral synostosis, microgastria, cryptorchidism, dislocated hips, proximal femoral deficiency, and an autism spectrum disorder. This combination of findings has not been previously reported. Features of particular interest are the radiohumeral synostosis and microgastria, both of which are rare defects, and to our knowledge, have not been reported to occur together. We propose that the patient has a newly recognized syndrome consisting of the aforementioned features, the etiology of which is unknown.

Readiness for Parkinson's disease genetic testing and counseling in patients and their relatives in urban settings in the Dominican Republic.

Genetic testing for Parkinson's disease (PD) is increasing globally, and genetic counseling is an important service that provides information and promotes understanding about PD genetics and genetic testing. PD research studies have initiated outreach to underrepresented regions in North America, including regions in Latin America, such as the Dominican Republic (DR); some studies may include return of genetic test results. Thus, understanding what individuals know about PD, genetic testing for PD, and their interest in speaking with a genetic counselor, is crucial when assessing readiness. In this cross-sectional study, a survey was distributed to people with Parkinson's disease (PwP) and their unaffected biological relatives in the DR. Questions assessed genetics knowledge, attitude toward genetic testing, and interest in genetic testing and counseling. Of 45 participants, 69% scored the maximum on the attitude scale, indicating an overall positive attitude toward genetic testing; 95% indicated interest in genetic testing for PD, and 98% were at least somewhat interested in meeting with a genetic counselor. The mean PD genetics knowledge score was similar to previously published data. Through free text responses, participants expressed a desire to know more about PD treatment and management, prevention, cause, and their personal risk for PD. These results provide further evidence of readiness for genetic testing in this country but also underscore some gaps in knowledge that should be addressed with targeted educational efforts, as part of building genetic testing and counseling capacities.

A brother and sister with the same karyotype: Case report of two siblings with partial 3p duplication and partial 9p deletion and sex reversal.

Two siblings with the same male unbalanced karyotype demonstrate sex reversal. The older sib appeared phenotypically female and the younger sib demonstrated a male gender. The female had gonadal dysgenesis with bilateral ovatestes. The male had bilateral testes. The report discusses the phenotypical differences and genes associated with sex reversal.

A report of an apparent new genetic syndrome consisting of joint contractures, keloids, large optic cup-to-disc ratio and renal stones.

We report on a family with an apparently undescribed syndrome involving joint contractures, keloids, an increased optic cup-to-disc ratio, and renal stones. The propositus presented at 9 years of age with congenital contractures of his distal interphalangeal (DIP) joints, progressive stiffness of the shoulders and neck, a large optic cup-to-disc ratio, and mildly dysmorphic facies. He otherwise has been normal. The propositus's brother, uncle, great-uncle, a half great-uncle, and six male half-cousins once removed also have DIP joint stiffness. The propositus' mother and brother also have an increased optic cup-to-disc ratio. In addition, the great-grandfather, the uncle, the same six male half-cousins once removed, and an affected daughter of a half-cousin have keloids with the earliest age of onset of the keloids being 12 years. Further, three of the above affected males have had uric acid renal stones. Dupuytren contractures and subcutaneous nodules were also present in some affected males. Given the family history, the pattern of inheritance appears to be X-linked. An extensive literature search failed to reveal any previous reports associating these manifestations and this inheritance pattern. Therefore, we think the condition in this family comprises a new genetic syndrome.

A case of de novo partial tetrasomy of distal 6p and review of the literature.

We report on a 3-year-old girl with bilateral eyelid colobomas, bulbous nose, blepharophimosis, blepharoptosis, sensorineural hearing loss, atrial septal defect, psychomotor retardation, and growth delay. Cytogenetic analysis showed additional material of unknown origin on the short arm of chromosome 8. Whole chromosome paint FISH identified the additional material to originate from chromosome 6. Subtelomeric metaphase FISH analysis detected a bright signal pattern for the 6p subtelomere probe on the derivative 8 as well as two short arm signals for the normal chromosomes 6. Interphase FISH with the 6p subtelomere probe demonstrated four 6p signals. Interestingly, metaphase FISH with a probe for the 8p subtelomere region demonstrated a signal for 8p just proximal to the translocated material. Comparative genomic hybridization studies confirmed tetrasomy of the 6p subtelomere region from 6p25.1 --> 6p25.3. Thus our patient represents the first reported case of "pure" partial tetrasomy 6p, meaning the tetrasomy was not associated with a significant deletion of chromosome arm 8p. We compare here this case with previously reported cases of partial trisomy 6p and the resulting phenotypes.