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Many pediatric oncology patients and their families may benefit from genetic counseling and testing; however, identifying the best timing and delivery method for these referrals is sometimes a challenge. The goal of this study was to understand how and when caregivers prefer to receive information about genetic counseling and testing. A total of 56 surveys completed by caregivers at The Johns Hopkins Hospital Pediatric Oncology unit in Baltimore, Maryland were analyzed. A sizeable subset of respondents was interested in receiving information about the availability of genetic counseling from an oncology doctor or nurse, but not a genetic counselor (n=13/55, 24%). Most respondents preferred to be informed about genetic services at diagnosis (n=28/54, 52%) or within 1 to 2 months of diagnosis (n=14/54, 26%). In conclusion, patients and their families may benefit from prompt and early recognition of the risk of cancer predisposition syndromes, preferably within the first 2 months following diagnosis. Oncology professionals are an important source of information, and can introduce the availability of genetic counseling services and motivate families to undergo genetic testing, though alternative communication methods such as brochures may also be useful.

Latinos in the U.S. suffer health disparities including stage of disease at time of breast or colon cancer diagnosis. Understanding Latinas’ causal attributions of breast and colon cancer may provide insight into some of the individual level determinants of cancer disparities in this population. Cultural consensus analysis (CCA) is one way to study causal beliefs. The objective of this study was to describe Latina immigrants’ causal attributions of breast and colon cancer. We conducted Spanish-language interviews with 22 Latina immigrants using a qualitative exploratory design comprised of freelisting, ranking, and open-ended questions. Participants freelisted causes and risk factors for breast and colon cancer then ranked risk factors according to their perceived role in the development of each cancer. CCA was conducted on rank orders to identify whether a cultural consensus model was present. Participants answered semi-structured, open-ended questions regarding the risk factors and rankings. Interviews were transcribed and subjected to thematic analysis. CCA showed no consensus around rank of causes for either cancer. “Genetics” and “hereditary factors” ranked first and second on average across participants for both cancers. Based on interview data, participants were less aware of colon cancer than breast cancer. Participants’ causal attributions of breast and colon cancer were similar to those reported in studies of primarily non-Latina populations. While tailoring education in other ways may make it more acceptable, evidence suggests that it is appropriate for the information provided to Latina immigrant populations about breast and colon cancers to be similar to that provided to non-Latina patients.

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. Supplementary Information The online version contains supplementary material available at 10.1007/s12687-021-00533-4.

Implementation and adherence to consensus statement criteria for referral of pediatric cancer patients for genetic evaluation are critical to identify the 5% to 10% with a genetic cancer predisposition syndrome. The authors implemented a Plan-Do-Study-Act quality improvement initiative aimed at increasing referrals of at-risk patients. Retrospective chart review was followed by educational intervention-with impact assessed over a 9-month prospective chart review. Referral rate improved >2-fold and there was an improvement in documented oncologic history to at least a third-degree relative. The integration of quality improvement can be an effective tool to improve the referral of patients with an elevated risk for a cancer predisposition syndrome.

Hypermobile Ehlers-Danlos syndrome (hEDS) is a common disorder in children and adolescents that negatively impacts health-related quality of life (HRQOL). It can include chronic pain, fatigue, autonomic dysfunction, and mood problems. The objective of this study was to examine levels of agreement between children and parents in the setting of hEDS and HRQOL. Individuals with hEDS, ages 10-20 years, and their parents were recruited to complete a series of surveys. Instruments included pediatric quality of life generic and multidimensional fatigue scales, Functional Disability Index, Pain-Frequency-Severity-Duration scale, Brief Illness Perception Questionnaire, and Herth Hope Index. Agreement on each measure was evaluated using statistical calculations. Thirty-six parent-child dyads completed the surveys. There were no significant differences between the means of parent and child scores. There was moderate to strong agreement on all survey scores. However, the proportion of dyads with disagreement was relatively high for each individual score. Eighteen dyads disagreed on at least half of the surveys. Body mass index centile and child perception of cognitive fatigue most strongly predicted disagreement in total HRQOL score. Proxy-reporters for children and adolescents with hEDS may agree with their child on average. However, due to significant frequency of clinically important disagreement, information from both children and their parents should be sought whenever possible.

OBJECTIVE: To refine the natural history and genotype-phenotype correlations of OTOF-related auditory neuropathy spectrum disorders (ANSD) through the analysis of audiograms and distortion product otoacoustic emissions (DPOAEs) in a diverse cohort of individuals with hearing loss. METHODS: Audiograms and DPOAEs were collected from individuals diagnosed with OTOF-related ANSD by comprehensive genetic testing and from the published literature. Comparative analysis was undertaken to determine genotype-phenotype relationships using a Monte Carlo algorithm. RESULTS: 67 audiograms and 25 DPOAEs from 49 unique individuals positive for OTOF-related ANSD were collected. 51 unique OTOF pathogenic variants were identified of which 21 were missense and 30 were loss of function (LoF; nonsense, splice-site, copy number variants, and indels). There was a statistically significant difference in low, middle, and high frequency pure tone average hearing loss thresholds with missense/missense and LoF/missense genotypes (average: 70.9, 76.0, and 73.4 dB hearing loss) compared with LoF/LoF genotypes (average: 88.5, 95.6, and 94.7 dB hearing loss) via Tukey’s test with age as a co-variate (P = 0.0180, 0.0327, and 0.0347 respectively). Hearing declined during adolescence with missense/missense and LoF/missense genotypes with an annual mid-frequency threshold deterioration of 0.87 dB/year and 1.87 dB/year, respectively. 8.5% of measured frequencies via DPOAE were lost per year in individuals with serial tests. CONCLUSIONS: Audioprofiling of OTOF-related ANSD suggests significantly worse hearing with LoF/LoF genotypes. OTOF-related ANSD causes a unique pattern of variably progressive autosomal recessive auditory neuropathy that may be amenable to gene therapy in selected clinical scenarios.

Genetic and environmental interactions predispose certain groups to lung cancer, including families. Families or caregiving units experience the disease interdependently. We have previously evaluated the concerns and preferences of patients in addressing the lung cancer experience and cancer risks in their families. This qualitative study evaluates the concerns and preferences of family members and caregivers of patients with lung cancer in the lung cancer experience and familial cancer risks. We held focus groups to discuss the format and timing of addressing these preferences and concerns. Qualitative data generated was analyzed using a grounded theory approach. Five focus groups totaling 19 participants were conducted. Seven themes were identified: (1) journey to lung cancer diagnosis has core dimensions for patient and family, (2) importance of communication between patients, families, and providers, (3) challenges for caregivers and family, (4) mixed perceptions of lung cancer causation among relatives, (5) discussion of cancer risk with relatives has complex dynamics, (6) impact of diagnosis on family health behaviors and screening, (7) role of genetic counseling. Family members of patients with lung cancer are interested in discussing risk factors, prevention, and diagnoses and also would like access to other supportive services do learn about and cope with some of the stresses and barriers they experience in the family lung cancer journey. The diagnosis represents a potential teachable moment with the opportunity to reduce the risk of LC development or improve early detection in LC patient’s family members.

Given advances in genomic medicine, medical students need increased confidence in clinical genetics skills to address multiple genetic conditions. After success of first-year medical school instruction in the Online Mendelian Inheritance in Man (OMIM®) database, we report the impact on gaining confidence in broad clinical genetics skills in 5 subsequent years. We collected 5 years of successive pre- and postintervention survey based self-assessments on medical student use of genetic medicine information resources and confidence in genetic medicine skills. To assess retention of confidence in these skills, we administered a follow-up survey to students after 1–2 years of clinical rotations. We found a consistent, statistically significant increase in students’ confidence in clinical genetics skills after the first-year OMIM educational session, with confidence retention above baseline up to 2 years after the educational exposure. Skills include ability to generate a differential diagnosis for genetic conditions, share information with patients and families, and find accurate information on genetic conditions. The majority agreed that increased use of OMIM will better prepare students to achieve these skills. Integration of the OMIM database in first-year education is an effective instructional tool that may provide a lasting increase in confidence in clinical genetics skills.

To explore how sponsorship functions as a professional relationship in academic medicine.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.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.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.

Disease-causing mutations in a linkage-specific deubiquitylase provide insights into chromatin remodeling during embryogenesis., Reversible modification of proteins with linkage-specific ubiquitin chains is critical for intracellular signaling. Information on physiological roles and underlying mechanisms of particular ubiquitin linkages during human development are limited. Here, relying on genomic constraint scores, we identify 10 patients with multiple congenital anomalies caused by hemizygous variants in OTUD5, encoding a K48/K63 linkage–specific deubiquitylase. By studying these mutations, we find that OTUD5 controls neuroectodermal differentiation through cleaving K48-linked ubiquitin chains to counteract degradation of select chromatin regulators (e.g., ARID1A/B, histone deacetylase 2, and HCF1), mutations of which underlie diseases that exhibit phenotypic overlap with OTUD5 patients. Loss of OTUD5 during differentiation leads to less accessible chromatin at neuroectodermal enhancers and aberrant gene expression. Our study describes a previously unidentified disorder we name LINKED (LINKage-specific deubiquitylation deficiency–induced Embryonic Defects) syndrome and reveals linkage-specific ubiquitin cleavage from chromatin remodelers as an essential signaling mode that coordinates chromatin remodeling during embryogenesis.

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.

The aim of this integrative review is to investigate current literature regarding family health history (FHH) taking practices, attitudes, and challenges in the pediatric outpatient setting. FHH is a known clinical tool for providers; however, there are no explicit standards for pediatric FHH collection. The integrative review was performed according to the Preferred Reporting Items for Systematic Reviews and Meta-Analysis (PRISMA) guidelines. PubMed, Embase, CINAHL, PsycINFO, and Cochrane databases were searched for publications between January 2010 and December 2019, and 8 articles were selected for evaluation. Three themes are explored in this review: FHH collection practices, challenges, and tools. FHH collection practices were found to be inconsistent and the most commonly cited challenge was time. No validated FHH collection tools have been identified for the pediatric population. These findings suggest the need for standardization in FHH collection and further development of tools to improve FHH collection.

Integrating clinical genetic education in physician training is an important strategic approach in the era of genomic medicine. To understand how much the board examinations of the American Board of Medical Specialties contain genomics-related content, a descriptive analysis of 21 exam blueprints was performed. Topics in genomics were not included in 43% of specialty blueprints which shows underrepresentation of clinical genetics in graduate medical education curricula.

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.

Embryonic development occurs through commitment of pluripotent stem cells to differentiation programs that require highly coordinated changes in gene expression. Chromatin remodeling of gene regulatory elements is a critical component of how such changes are achieved. While many factors controlling chromatin dynamics are known, mechanisms of how different chromatin regulators are orchestrated during development are not well understood. Here, we describe LINKED (LINKage-specific-deubiquitylation-deficiency-induced Embryonic Defects) syndrome, a novel multiple congenital anomaly disorder caused by hypomorphic hemizygous missense variants in the deubiquitylase OTUD5/DUBA. Studying LINKED mutations in vitro, in mouse, and in models of neuroectodermal differentiation of human pluripotent stem cells, we uncover a novel regulatory circuit that coordinates chromatin remodeling pathways during early differentiation. We show that the K48-linkage-specific deubiquitylation activity of OTUD5 is essential for murine and human development and, if reduced, leads to aberrant cell-fate specification. OTUD5 controls differentiation through preventing the degradation of multiple chromatin regulators including ARID1A/B and HDAC2, mutation of which underlie developmental syndromes that exhibit phenotypic overlap with LINKED patients. Accordingly, loss of OTUD5 during early differentiation leads to less accessible chromatin at neural and neural crest enhancers and thus aberrant rewiring of gene expression networks. Our work identifies a novel mechanistic link between phenotypically related developmental disorders and an essential function for linkagespecific ubiquitin editing of substrate groups (i.e. chromatin remodeling complexes) during early cellfate decisions – a regulatory concept, we predict to be a general feature of embryonic development.

Background: Research in genetics and genomics has led to the development of precision medicine, with health care increasingly individually based on one's genetic makeup. Implementation of genetics and genomics in primary care has been challenging given the rapid development of new advances. Clinicians report difficulties incorporating genetics and genomics in practice, citing insufficient knowledge, training, confidence, and resources for genetic diagnoses, testing, and result reporting. Method: Three pediatric nurse practitioner students participated in elective clinical rotations in pediatric genetics, with the goals of approaching all patients with genetic thinking, gaining competence collecting family health histories, and understanding available genetic resources. Results: Postrotation, students gained genetic thinking skills, competence collecting a three-generational family health history to assess genetic risk factors and aid in genetic diagnosis, and the ability to navigate genetic resources. Conclusion: Genetics clinical rotations during primary care nurse practitioner education is an effective strategy to learn genetic and genomic competencies. [ J Nurs Educ . 2018;57(11):690–693.]

Introduction The PhenX Toolkit, an online resource of well-established measures of phenotypes and exposures, now has 16 new measures recommended for assessing rare genetic conditions. Materials and Methods These measures and their protocols were selected by a working group of domain experts with input from the scientific community. Results The measures cover life stages from birth through adulthood, and include clinical scales, characterization of rare genetic conditions, bioassays, and questionnaires. Most are broadly applicable to rare genetic conditions, e.g., family history, growth charts, bone age, and body proportions. Some protocols, e.g., sweat chloride test, target specific conditions. Discussion The rare genetic condition measures complement the existing measures in the PhenX Toolkit that cover anthropometrics, demographics, mental health, and reproductive history. They are directed at research pertaining to common and complex diseases. PhenX measures are publicly available and are recommended to help standardize assessments across a range of biomedical study designs. To facilitate incorporation of measures into human subjects’ research, the Toolkit offers data collection worksheets, and compatible data dictionaries. Conclusion Widespread use of standard, PhenX measures in clinical, translational and epidemiological research will enable more uniform cross-study comparisons and increase statistical power with the potential for enhancing scientific discovery.

We are not aware of any competency-based evaluation method that is specifically designed for a genetics elective for medical students. Here, we aimed to create a milestone template to improve evaluation and to use the feedback from the template to improve the elective. Through an iterative process using feedback from eight medical students and eight attendings, we crafted a milestone template for the medical student genetics rotation. A “scavenger hunt” of activities was developed to address several gaps discovered through this process. All participants felt that the milestone template was complete for the student level and that it improved evaluation. In response to faculty feedback, we modified the evaluation process such that several evaluators rated students in only selected domains. Scavenger hunt activities were designed to address five domains that the students reported to be inadequately covered. Developing a milestone template has taken us a step closer to meaningful assessment of students completing the genetics elective and simultaneously allowed us to strengthen the elective. Meaningful elective experiences in genetics that provide individual feedback within a learner-centered assessment of progress and flexible out-of-classroom activities may contribute to lifelong learning and interest in genetics and genomics. Genet Med 19 2, 236–239.

Mentoring is a responsibility of the nurse to advance the nursing profession and can be viewed from an ethical perspective. Little has been reported about mentoring in hospice and palliative nursing, and data to support this concept are lacking. Yet, nowhere is mentoring more essential than in this

As the integral role of genetics in health and disease becomes increasingly understood, pediatricians must incorporate genetic principles into their care of patients. Structured exposure to genetics during residency may better equip future pediatricians to meet this goal. Pediatric interns in the Johns Hopkins pediatric residency program have the option to spend one week immersed in clinical genetics by attending outpatient clinics and seeing inpatient consults. A pretest assessing clinical genetics knowledge is given before the rotation and compared with an identical post-test. Interns have a “scavenger hunt” to introduce genetic resources useful to pediatricians and complete a logbook of patient experiences. An evaluation is completed at the end of the rotation. Since the selective started in July 2016, 50 interns have participated. Average pretest score was 2.5/5 compared with a post-test score of 4.3/5, p

Background: Women in academic medicine are not attaining parity with men in several domains. This issue is not only one of fairness; some funding agencies are requesting data on gender ben...

Uncertainty is a challenging aspect of caring for children with Duchenne/Becker muscular dystrophies (DBMD). Although uncertainty is often perceived as a state to be avoided, hope may influence caregivers' perceptions of uncertainty as opportunity. The goal of this cross-sectional quantitative study was to pilot a novel measure of state-based hope, and test relationships among uncertainty, hope, spirituality, and coping efficacy in mothers of children with DBMD. Mothers (n = 202) were recruited through DuchenneConnect, Parent Project Muscular Dystrophy, and Cincinnati's Children Hospital. A one-component solution for the novel Parent Hope Scale explained 44.3% of the variance, and the measure showed high internal consistency. Higher hope (P < 0.001), further disease progression (P = 0.042), and older mother's age (P = 0.001) were significantly associated with lower perceptions of uncertainty. Mothers reporting less hope (P < 0.001), higher perceptions of uncertainty (P < 0.001), and less spirituality (P = 0.001) reported lower coping efficacy. As such, hope appears to be a key variable in shaping uncertainty appraisals and facilitating coping efficacy. While further research is needed, counseling aimed at bolstering hope, particularly among less-hopeful mothers, and interventions to reappraise uncertainty, may be helpful in promoting coping efficacy.

Purpose To outline structures for regional genetic services support centers that improve access to clinical genetic services. Methods A workgroup (WG) and advisory committee (AC) (1) conducted a comprehensive review of existing models for delivering health care through a regional infrastructure, especially for genetic conditions; (2) analyzed data from a needs assessment conducted by the National Coordinating Center (NCC) to determine important components of a regional genetic services support center; and (3) prioritized components of a regional genetic services support system. Results Analysis of identified priorities and existing regional systems led to development of eight models for regional genetic services support centers. A hybrid model was recommended that included an active role for patients and families, national data development and collection, promotion of efficient and quality genetic clinical practices, healthcare professional support for nongeneticists, and technical assistance to healthcare professionals. Conclusion Given the challenges in improving access to genetic services, especially for underserved populations, regional models for genetic services support centers offer an opportunity to improve access to genetic services to local populations. Although a regional model can facilitate access, some systemic issues exist—e.g., distribution of a workforce trained in genetics—that regional genetic services support centers cannot resolve.

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.

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.

Given advances in genomic medicine, medical students need increased confidence in clinical genetics skills to address multiple genetic conditions. After success of first-year medical school instruction in the Online Mendelian Inheritance in Man (OMIM®) database, we report the impact on gaining confidence in broad clinical genetics skills in 5 subsequent years.We collected 5 years of successive pre- and postintervention survey based self-assessments on medical student use of genetic medicine information resources and confidence in genetic medicine skills. To assess retention of confidence in these skills, we administered a follow-up survey to students after 1-2 years of clinical rotations.We found a consistent, statistically significant increase in students' confidence in clinical genetics skills after the first-year OMIM educational session, with confidence retention above baseline up to 2 years after the educational exposure. Skills include ability to generate a differential diagnosis for genetic conditions, share information with patients and families, and find accurate information on genetic conditions. The majority agreed that increased use of OMIM will better prepare students to achieve these skills.Integration of the OMIM database in first-year education is an effective instructional tool that may provide a lasting increase in confidence in clinical genetics skills.

The use of live video consultations in genetics has been shown to improve patient access with high satisfaction; however, little is known about the current landscape of clinical telehealth models in the field of genetics (i.e., telegenetics). This survey aimed to address that gap across seven states and the District of Columbia. Among 51 self-defined telegenetics programs responding to an online survey, 32 currently utilized live videoconferencing as at least one of their technologies (i.e., were "video-capable"). Analysis of this subgroup revealed that medical institutions were the most common program setting, and prenatal and cancer services were the most common sub-specialty. Forty-seven percent of these programs reported billing insurance for patient care. When exploring measures of patient access among these programs, 56% had a wait time of under 2 weeks, 25% saw more than 50 patients per month, 50% estimated their geographic reach at over 200 miles, and 59% were able to provide remote telegenetics consultations to patients' homes. Professional licensure was reported as the biggest barrier, and patient access and convenience were reported as the largest benefit and success. Among the 19 remaining programs, eight currently active programs exclusively used telephone technology; these were less likely to have a geneticist (p = 0.01), had a shorter wait time (p = 0.04), and had been established for a longer time (p = 0.02) when compared to video-capable programs. Further, two currently active programs indicated the use of store-and-forward telehealth. Finally, nine programs were currently planning their programs, with a focus on video-capable technologies and more varied patient specialties. We observed a diverse landscape of telehealth models being utilized to provide genetic services, and the data demonstrated that these programs are focused on enhancing patient access. Our query about telegenetics drew responses from programs that were not using live videoconferencing technology models, which prompts further exploration, and challenges us to develop consensus around the meaning of "telegenetics." Similarly, our data suggest a need for continued research to assess the equivalency, accessibility, and role of telephone consultations across genetic services. While a multitude of policy factors influence which service delivery models are utilized, further research on these varied approaches, and their associated patient outcomes, is also needed to inform program development.

As medical genetic services become a standard part of healthcare, it will become increasingly important to understand how individuals interpret and use genetic information. Exploring lay beliefs of disease inheritance that differ along cultural lines is one research strategy. The purpose of this study was to describe conceptualizations of disease inheritance held by members of the Latina immigrant population in the United States. Semi-structured interviews were employed to gather qualitative, exploratory data from 20 Latina immigrant women. All interviews were conducted in Spanish, and thematic analysis was used to analyze interview transcripts. Demographic and acculturation data were also collected and analyzed. The final sample was diverse in age, time lived in the United States, country of birth, and education level. From participant interviews, the authors identified one dominant model of disease inheritance to which most participants ascribed as well as two non-dominant models. The main model was characterized by a focus on the ability to modify an underlying disease risk, especially in the case of hereditary predisposition to common complex disease. Of the non-dominant models, one focused on genetic disease as extraordinary and less modifiable while the other placed less emphasis on the role of genes in health and greater emphasis on non-genetic factors. Across these models, participants expressed their uncertainty about their understanding of genetics. Many of the themes that arose from the interviews, including uncertainty in their own understanding of genetics, were similar to those seen in studies among other populations. Importantly, participants in this study demonstrated a lack of genetic fatalism, which may allay fears that explaining the role of genetics in common health conditions will reduce uptake of positive health behaviors. These findings have practice implications for healthcare providers communicating genetic information to Latina immigrants.

The objective of this study was to explore the factors contributing to quality of life in pediatric patients with non-vascular Ehlers-Danlos syndromes (EDS). Data were analyzed on 41 children with a diagnosis of non-vascular EDS from the de-identified data available from the National Institute on Aging (NIA) study of heritable disorders of connective tissue. Children under age 19 years were seen as part of a long-term evaluation project from 2003 to 2013 on a larger natural history of patients with heritable disorders of connective tissue. Data collected included medical history, physical examination findings, diagnostic study results, and responses on validated questionnaires. We reviewed a sub-cohort of children with a diagnosis of non-vascular EDS and explored pain severity and interference via the Brief Pain Inventory, and sleep quality via the Pittsburgh Sleep Quality Index. Pain severity had a strong correlation with pain interference, and both were similar to other disorders that include chronic pain reported in the literature. Sleep quality did not correlate with pain severity or interference, but all patients had poor sleep quality in comparison to historical controls. We conclude that pain and sleep are significant issues in the pediatric non-vascular EDS population, and future research may be directed toward these issues.

Mutations in PIGN, resulting in multiple congenital anomalies-hypotonia-seizures syndrome, a glycosylphosphatidylinositol anchor deficiency, have been published in four families to date. We report four patients from three unrelated families with epilepsy and hypotonia in whom whole exome sequencing yielded compound heterozygous variants in PIGN. As with previous reports Patients 1 and 2 (full siblings) have severe global developmental delay, gastroesophageal reflux disease, and minor dysmorphic features, including high palate, bitemporal narrowing, depressed nasal bridge, and micrognathia; Patient 3 had early global developmental delay with later progressive spastic quadriparesis, intellectual disability, and intractable generalized epilepsy; Patient 4 had bilateral narrowing as well but differed by the presence of hypertelorism, markedly narrow palpebral fissures, and long philtrum, had small distal phalanges of fingers 2, 3, and 4, absent distal phalanx of finger 5 and similar toe anomalies, underdeveloped nails, unusual brain anomalies, and a more severe early clinical course. These patients expand the known clinical spectrum of the disease. The severity of the presentations in conjunction with the patients' mutations suggest a genotype-phenotype correlation in which congenital anomalies are only seen in patients with biallelic loss-of-function. In addition, PIGN mutations appear to be panethnic and may be an underappreciated cause of epilepsy.

Discussion of family health history (FH) has the potential to be a communication tool within families and with health providers to stimulate health promotion related to many chronic conditions, including those with genetic implications for prevention, screening, diagnosis, treatment. Diverse communities with disparities in health outcomes may require different approaches to engage individuals and families in the evolving areas of genetic risk communication, assessment, and services. This work was a partnership of a local urban agency and academic genetics professionals to increase understanding of community concerns and preferences related to FH and genetic awareness. Thirty community stakeholders in the East Baltimore area participated in structured interviews conducted by community members. We identified key themes on family health history FH, risk assessment, and genetic services. Forty-three percent (18/27) of community stakeholders thought families in East Baltimore did not discuss family health history FH with doctors. Stakeholders recognized the benefits and challenges of potential actions based on genetic risk assessment and the multiple competing priorities of families. FH awareness with community engagement and genetics education were the major needs identified by the participants. Research undertaken in active collaboration with community partners can provide enhanced consumer perspectives on the importance of family health history and its potential connections to health promotion and prevention activities.

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.

The risk factors, diagnosis, management, and outcomes for lung cancer (LC) are a family experience. Genetic and environmental factors interact to predispose certain groups to LC, including family member, and the family or caregiving unit experiences the disease course as an interdependent group. This qualitative study examined the concerns and preferences of LC patients about incorporating family in addressing their lung cancer experiences and cancer risks. This project aims to identify concerns and preferences for addressing family history documentation, risk assessment, prevention, and follow-up issues for LC patients and their family. We held focus groups (FG) to discuss the format and timing of addressing these preferences and concerns. The qualitative data was analyzed using a grounded theory approach. 7 FG totaling 17 participants were conducted. The mean age was 64. All patients had advanced lung cancer. Participants included five males; nine African-Americans; three current, 11 former and three never smokers. Five participants had parents or grandparents with LC. Two had siblings with LC. Six themes were identified: (1) Varied journeys to LC diagnosis. (2) Mixed patient perceptions of cancer causation. (3) Limited documentation and utilization of family history. (4) Diverse attitudes toward smoking cessation. (5) A range of discussions about cancer risk, prevention, and screening. (6) Implications for implementation of family-centered cancer care and health promotion. The diagnosis of LC, its management, and outcomes occur in the family context. The diagnosis represents a potential teachable moment with opportunity to reduce the risk of LC development or improve early detection in a population at higher risk of developing lung cancer. Lung cancer patients are interested in discussing risk factors, prevention, and diagnosis of lung cancer for their relatives.

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.