The 2019 medical genetics workforce: A focus on laboratory geneticists.

PURPOSE: The aim of this report is to inform the genetics and genomics field about the results of a 2019 workforce survey of US laboratory geneticists. METHODS: The American Board of Medical Genetics and Genomics distributed an electronic survey to board-certified/eligible diplomates in 2019. Analysis of the responses was performed by the American College of Medical Genetics and Genomics. RESULTS: A total of 422 individuals identified as laboratory geneticists. The respondents represent the range of possible certifications. Nearly one-third were Clinical Cytogenetics and Genomics diplomates, another third were Molecular Genetics and Genomics diplomates, and the others were Clinical Biochemical Genetics diplomates or held a combination of certificates. The majority of laboratory geneticists are PhDs. The others were physicians or other degree combinations. Most laboratory geneticists work in academic medical centers or commercial laboratories. Most respondents identified as females and White. The median age was 53 years. A third of the respondents have been in the profession for 21+ years and plan to reduce hours or retire in the next 5 years. CONCLUSION: The genetics field needs to foster the next generation of laboratory geneticists to meet the increasing complexity and demand for genetic testing.

Vascular aneurysms in Ehlers-Danlos syndrome subtypes: A systematic review.

Aneurysmal lesions are commonly seen in Ehlers-Danlos Syndrome (EDS). To better identify the regional and vessel-specific spectrum of aneurysms in different subtypes of EDS, we performed a systematic review. We searched Medline for relevant studies from 1963 to April 2022. Studies providing a report of any EDS subtype by genetic diagnosis, histologic analysis, or clinical criteria were included. A total of 448 patients from 220 studies were included. 720 vessel-specific aneurysms were reported: 386 in the abdominopelvic area, 165 in the intracranial region, 98 in the thorax, 2 in the extremities, and 6 in the venous system. In 27 out of the 65 patients with ruptured aneurysms, the ruptured aneurysm was the initial presentation. Multiple aneurysms were present in 163 out of 249 patients who had been systematically evaluated for other locations of aneurysms. The head and neck and abdominopelvic regions are two potential foci for aneurysm formation in patients with EDS. The aneurysm development in EDS is not confined to arteries; the venous system and cardiac septa may also be affected. Many patients develop multiple aneurysms, either at the time of the initial presentation or throughout their lifetime and aneurysm formation or rupture may be the first presentation of EDS.

Monochorionic twins with 15q26.3 duplication presenting with selective intrauterine growth restriction and discordant cardiac anomalies: A case report.

BACKGROUND: Duplication of the distal end of chromosome 15q has been previously implicated in a characteristic overgrowth syndrome. Additionally, many patients have other congenital malformations, including cardiac, renal, genital, and musculoskeletal anomalies. However, some patients may present with intrauterine growth restriction and short stature. Different breakpoints within 15q, as well as different environmental factors, may underlie these varied presentations. CASE PRESENTATION: We discuss monochorionic-diamniotic twins with a ~345 kb maternally inherited duplication in 15q26.3. The twins presented with discordant pathology-one twin with a single umbilical artery, selective intrauterine growth restriction, and multiple cardiac defects including aortic coarctation, aortic valve stenosis, and ventricular septal defect, whereas the other twin was unaffected. To our knowledge, this case represents the smallest reported duplication of distal 15q. CONCLUSION: The discordant phenotype seen in the twins is likely due to a complex interplay between genetic and environmental causes. The affected infant presented prenatally with growth restriction and a single umbilical artery rather than overgrowth, potentially due to a unique breakpoint within 15q. This, in turn, may have produced hemodynamic perturbations between the twins, leading to discordant cardiac disease. Our report thus highlights the importance of genetic and nongenetic mechanisms underlying discordant anomalies in monochorionic twins.

Demographic and socioeconomic trends in DNA banking utilization in the USA.

Demographic and clinical information from de-identified individuals utilizing a single DNA banking service over a 22-year period was assessed using descriptive statistics. The socioeconomic characteristics of the study population were estimated using a zip code-level analysis of US Census data and compared to national US Metrics for 2016. Samples from 4,874 individuals were deposited to a single commercial DNA bank from 1997 to 2019. Samples originated from 31 countries across 6 continents, with the majority of samples originating from the United States (US; 97.37%; n = 4,746). A higher proportion of individuals identifying as females (55.58%; n = 2,709) utilized the service compared to males (41.18%; n = 2,007). The age distribution was bimodal, peaking around 5 years of age and again around 65 years of age. Whole blood was the preferred specimen for submission. Sample deposits peaked in 2015 with 559 annual deposits. Clinical genetic counselors were the most common referral source (41.73%; n = 2,034). Individuals utilizing DNA banking services are estimated to reside in wealthier, more educated and less racially diverse zip codes compared to national metrics. Although direct to consumer DNA banking is being utilized by the general public and clinical genetic counselors in the US, it is not widespread.

The 2019 US medical genetics workforce: a focus on clinical genetics.

PURPOSE: This study characterizes the US clinical genetics workforce to inform workforce planning and public policy development. METHODS: A 32-question survey was electronically distributed to American Board of Medical Genetics and Genomics board-certified/eligible diplomates in 2019. We conducted a descriptive analysis of responses from practicing clinical geneticists. RESULTS: Of the 491 clinical geneticists responding to the survey, a majority were female (59%) and White (79%), worked in academic medical centers (73%), and many engaged in telemedicine (33%). Clinical geneticists reported an average of 13 new and 10 follow-up patient visits per week. The average work week was 50 hours and the majority (58%) worked over half-time in clinical duties. Providers indicated that 39% of new emergency patients wait 3 days or more, and 39% of nonemergency patients wait over 3 months to be seen. Respondents were geographically concentrated in metropolitan areas and many reported unfilled clinical geneticist job vacancies at their institution of more than 3 years. CONCLUSION: With the rapid expansion of genomic medicine in the past decade, there is still a gap between genetics services needed and workforce capacity. A concerted effort is required to increase the number of clinical geneticists and enhance interdisciplinary teamwork to meet increasing patient needs.

"It's a Little Different for Men"-Sponsorship and Gender in Academic Medicine: a Qualitative Study.

BACKGROUND: Women remain underrepresented in top leadership positions in academic medicine. In business settings, a person with power and influence actively supporting the career advancement of a junior person is referred to as a sponsor and sponsorship programs have been used to diversify leadership. Little is known about how sponsorship functions in academic medicine. OBJECTIVE: To explore perceptions of sponsorship and its relationship to gender and career advancement in academic medicine. DESIGN: Qualitative study using semi-structured, one-on-one interviews with sponsors and protégés. PARTICIPANTS: Twelve sponsors (clinical department chairs) and 11 protégés (participants of a school of medicine executive leadership program [N = 23]) at the Johns Hopkins School of Medicine. KEY RESULTS: All sponsors were men and all were professors, six of the 11 protégés were women, and four of the 23 participants were underrepresented minorities in medicine. We identified three themes: (1) people (how and who): women seek out and receive sponsorship differently; (2) process (faster and further): sponsorship provides an extra boost, especially for women; and (3) politics and culture (playing favorites and paying it forward): sponsorship and fairness. Informants acknowledge that sponsorship provides an extra boost for career advancement especially for women. Sponsors and protégés differ in their perceptions of how sponsorship happens. Informants describe gender differences in how sponsorship is experienced and specifically noted that women were less likely to actively seek out sponsorship and be identified as protégés compared to men. Informants describe a tension between sponsorship and core academic values such as transparency, fairness, and merit. CONCLUSION: Sponsorship is perceived to be critical to high-level advancement and is experienced differently by women. Increased understanding of how sponsorship works in academic medicine may empower individual faculty to utilize this professional relationship for career advancement and provide institutions with a strategy to diversify top leadership positions.

Mentorship Is Not Enough: Exploring Sponsorship and Its Role in Career Advancement in Academic Medicine.

PURPOSE: To explore how sponsorship functions as a professional relationship in academic medicine. METHOD: The authors conducted semistructured interviews with Johns Hopkins University School of Medicine faculty in 2016: department chairs (sponsors) and faculty participants of an executive leadership development program (protégés). Using editing analysis style, the authors coded interview transcripts for thematic content; a coding framework and themes were derived using an iterative process. RESULTS: Five themes were identified from 23 faculty interviews (12 sponsors, 11 protégés): (1) Mentorship is different: Sponsorship is episodic and focused on specific opportunities; (2) Effective sponsors are career-established and well-connected talent scouts; (3) Effective protégés rise to the task and remain loyal; (4) Trust, respect, and weighing risks are key to successful sponsorship relationships; (5) Sponsorship is critical to career advancement. Sponsorship is distinct from mentorship, though mentors can be sponsors if highly placed and well connected. Effective sponsors have access to networks and provide unequivocal support when promoting protégés. Effective protégés demonstrate potential and make the most of career-advancing opportunities. Successful sponsorship relationships are based on trust, respect, mutual benefits, and understanding potential risks. Sponsorship is critical to advance to high-level leadership roles. Women are perceived as being less likely to seek sponsorship but as needing the extra support sponsorship provides to be successful. CONCLUSIONS: Sponsorship, in addition to mentorship, is critical for successful career advancement. Understanding sponsorship as a distinct professional relationship may help faculty and academic leaders make more informed decisions about using sponsorship as a deliberate career-advancement strategy.

The Role of Palliative Medicine in Assessing Hereditary Cancer Risk.

BACKGROUND:: Hereditary cancer assessment and communication about family history risks can be critical for surviving relatives. Palliative care (PC) is often the last set of providers before death. METHODS:: We replicated a prior study of the prevalence of hereditary cancer risk among patients with cancer receiving PC consultations, assessed the history in the electronic medical record (EMR), and explored patients' attitudes toward discussions about family history. This study was conducted at an academic urban hospital between June 2016 and March 2017. RESULTS:: The average age of the 75 adult patients with cancer was 60 years, 49 (55%) male and 49 (65%) white. A total of 19 (25%) patients had no clear documentation of family history in the EMR, sometimes because no family history was included in the admission template or an automatically imported template lacked content. In all, 24 (32%) patients had high-risk pedigrees that merited referral to genetic services. And, 48 (64%) patients thought that PC was an appropriate venue to discuss the implications of family history. The mean comfort level in addressing these questions was high. CONCLUSIONS:: At an academic center, 25% of patients had no family history documented in the EMR. And, 32% of pedigrees warranted referral to genetic services, which was rarely documented. There is substantial room for quality improvement for oncologists and PC specialists-often the last set of providers-to address family cancer risk before death and to increase use and ease of documenting family history in the EMR. Addressing cancer family history could enhance prevention, especially among high-risk families.

A Cost Analysis of Universal versus Targeted Cholesterol Screening in Pediatrics.

OBJECTIVE: To compare the number of children needed to screen to identify a case of childhood dyslipidemia and estimate costs under universal vs targeted screening approaches. STUDY DESIGN: We constructed a decision-analytic model comparing the health system costs of universal vs targeted screening for hyperlipidemia in US children aged 10 years over a 1-year time horizon. Targeted screening was defined by family history: dyslipidemia in a parent and/or early cardiovascular disease in a first-degree relative. Prevalence of any hyperlipidemia (low-density lipoprotein [LDL] ≥130 mg/dL) and severe hyperlipidemia (LDL ≥190 mg/dL or LDL ≥160 mg/dL with family history) were obtained from published estimates. Costs were estimated from the 2016 Maryland Medicaid fee schedule. We performed sensitivity analyses to evaluate the influence of key variables on the incremental cost per case detected. RESULTS: For universal screening, the number needed to screen to identify 1 case was 12 for any hyperlipidemia and 111 for severe hyperlipidemia. For targeted screening, the number needed to screen was 7 for any hyperlipidemia and 49 for severe hyperlipidemia. The incremental cost per case detected for universal compared with targeted screening was $1980 for any hyperlipidemia and $32 170 for severe hyperlipidemia. CONCLUSIONS: Our model suggests that universal cholesterol screening detects hyperlipidemia at a low cost per case, but may not be the most cost-efficient way to identify children with severe hyperlipidemia who are most likely to benefit from treatment.

High-Risk Palliative Care Patients' Knowledge and Attitudes about Hereditary Cancer Testing and DNA Banking.

Even at the end of life, testing cancer patients for inherited susceptibility may provide life-saving information to their relatives. Prior research suggests palliative care inpatients have suboptimal understanding of genetic importance, and testing may be underutilized in this clinical setting. These conclusions are based on limited research. This study aimed to estimate genetic testing prevalence among high-risk palliative care patients in a National Cancer Institute-designated comprehensive cancer center. We also aimed to understand these patients' understanding of, and attitudes toward, hereditary cancer testing and DNA banking. Palliative care in-patients with cancer completed structured interviews, and their medical records were reviewed. Among patients at high risk for hereditary cancer, we assessed history of genetic testing/DNA banking; and related knowledge and attitudes. Among 24 high-risk patients, 14 (58.3%) said they/their relatives had genetic testing or they had been referred for a genetics consultation. Of the remaining 10 patients, seven (70%) said they would "probably" or "definitely" get tested. Patients who had not had testing were least concerned about the impact of future testing on their family relationships; two (20%) said they were "extremely concerned" about privacy related to genetic testing. Of patients without prior testing, five (50%) said they had heard or read "a fair amount" about genetic testing. No high-risk patients had banked DNA. Overall, 23 (95.8%) said they had heard or read "almost nothing" or "relatively little" about DNA banking. Written materials and clinician discussion were most preferred ways to learn about genetic testing and DNA banking. Overall, this study demonstrates underutilization of genetics services at the end of life continues to be problematic, despite high patient interest.

Family Ties: The Role of Family Context in Family Health History Communication About Cancer.

Family health history about cancer is an important prevention and health promotion tool. Yet few studies have identified family context factors that promote such discussions. We explored relations among family context (cohesion, flexibility, and openness), self-efficacy, and cancer communication (gathering family history, sharing cancer risk information, and frequency) in a diverse group of women enrolled in a randomized control trial. Baseline survey data for 472 women were analyzed. The women's average age was 34 years, 59% identified as Black, 31% had graduated high school, and 75% reported a family history of any cancer. Results showed that greater family cohesion and flexibility were related to higher communication frequency and sharing cancer information. Women who reported greater self-efficacy were more likely to have gathered family history, shared cancer risk information, and communicated more frequently with relatives. Openness was not associated with communication but was related to greater family cohesion and flexibility. Adjusting for demographic variables, self-efficacy, and family cohesion significantly predicted communication frequency. Women with higher self-efficacy were also more likely to have gathered family health history about cancer and shared cancer risk information. Future research may benefit from considering family organization and self-efficacy when developing psychosocial theories that in turn inform cancer prevention interventions.

What women think: cancer causal attributions in a diverse sample of women.

Women hold diverse beliefs about cancer etiology, potentially affecting their use of cancer preventive behaviors. Research has primarily focused on cancer causal attributions survivors and participants from non-diverse backgrounds hold. Less is known about attributions held by women with and without a family history of cancer from a diverse community sample. Participants reported factors they believed cause cancer. Open-ended responses were coded and relations between the top causal attributions and key factors were explored. Findings suggest certain socio-cultural factors play a role in the causal attributions women make about cancer, which can, in turn, inform cancer awareness and prevention messages.

Horizontal integration of OMIM across the medical school preclinical curriculum for early reinforcement of clinical genetics principles.

PURPOSE: With the relentless expansion of genetics into every field of medicine, stronger preclinical and clinical medical student education in genetics is needed. The explosion of genetic information cannot be addressed by simply adding content hours. We proposed that students be provided a tool to access accurate clinical information on genetic conditions and, through this tool, build life-long learning habits to carry them through their medical careers. METHODS: Surveys conducted at the Johns Hopkins University School of Medicine revealed that medical students in all years lacked confidence when approaching genetic conditions and lacked a reliable resource for accurate genetic information. In response, the school created a horizontal thread that stretches across the first-year curriculum and is devoted to teaching students how to use Online Mendelian Inheritance in Man (OMIM) (http://omim.org) and the databases to which it links as a starting point for approaching genetic conditions. RESULTS: The thread improved the first-year students' confidence in clinical genetics concepts and encouraged use of OMIM as a primary source for genetic information. Most students showed confidence in OMIM as a learning tool and wanted to see the thread repeated in subsequent years. CONCLUSION: Incorporating OMIM into the preclinical curriculum improved students' confidence in clinical genetics concepts.

The KinFact intervention - a randomized controlled trial to increase family communication about cancer history.

BACKGROUND: Knowing family history is important for understanding cancer risk, yet communication within families is suboptimal. Providing strategies to enhance communication may be useful. METHODS: Four hundred ninety women were recruited from urban, safety-net, hospital-based primary care women's health clinics. Participants were randomized to receive the KinFact intervention or the control handout on lowering risks for breast/colon cancer and screening recommendations. Cancer family history was reviewed with all participants. The 20-minute KinFact intervention, based in communication and behavior theory, included reviewing individualized breast/colon cancer risks and an interactive presentation about cancer and communication. Study outcomes included whether participants reported collecting family history, shared cancer risk information with relatives, and the frequency of communication with relatives. Data were collected at baseline, 1, 6, and 14 months. RESULTS: Overall, intervention participants were significantly more likely to gather family cancer information at follow-up (odds ratio [OR]: 2.73; 95% confidence interval [CI]: 2.01, 3.71) and to share familial cancer information with relatives (OR: 1.85; 95% CI: 1.37, 2.48). Communication frequency (1=not at all; 4=a lot) was significantly increased at follow-up (1.67 vs. 1.54). Differences were not modified by age, race, education, or family history. However, effects were modified by pregnancy status and genetic literacy. Intervention effects for information gathering and frequency were observed for nonpregnant women but not for pregnant women. Additionally, intervention effects were observed for information gathering in women with high genetic literacy, but not in women with low genetic literacy. CONCLUSIONS: The KinFact intervention successfully promoted family communication about cancer risk. Educating women to enhance their communication skills surrounding family history may allow them to partner more effectively with their families and ultimately their providers in discussing risks and prevention.

AMEN in challenging conversations: bridging the gaps between faith, hope, and medicine.

All health care practitioners face patients and families in desperate situations who say, "We are hoping for a miracle." Few providers have any formal training in responding to this common, difficult, and challenging situation. We want to do our best to preserve hope, dignity, and faith while presenting the medical issues in a nonconfrontational and helpful way. We present the acronym AMEN (affirm, meet, educate, no matter what) as one useful tool to negotiate these ongoing conversations.

Patient-reported hereditary breast and ovarian cancer in a primary care practice.

Identifying women appropriate for cancer genetic counseling referral depends on patient-reported family history. Understanding predictors of reporting a high-risk family is critical in ensuring compliance with current referral guidelines. Our objectives were to (1) assess prevalence of candidates for BRCA1 and BRCA2 counseling referral in a primary care setting, (2) explore associations with high-risk status and various patient (e.g., race) and family structure (e.g., number of relatives) characteristics, and (3) determine whether high-risk patients had genetic counseling and/or testing. Survey and pedigree data were collected between 2010 and 2012 for 486 Women's Health Clinic patients. Analyses in 2013 investigated perceived cancer risk and worry, family structure, and receipt of genetic counseling. We explored whether these were associated with meeting USPSTF guidelines for genetic counseling referral. Twenty-two (4.5 %) women met the criteria for BRCA referral. Only one of these women had previous genetic counseling, and one reported prior genetic testing. Older women were more likely to meet BRCA referral criteria (P < 0.001). Although perceived risk was higher among high-risk women, 27 % of high-risk women felt their breast cancer risk was "low", and 32 % felt their risk was lower than average. About one in 22 women in primary care may require genetics services for hereditary breast and ovarian cancer, but alarmingly, few actually receive these services. Also, a significant proportion do not perceive that they are at increased risk. Educational interventions may be needed for both providers and patients to increase awareness of familial risk and appropriate genetic counseling services.