scispace - formally typeset
Search or ask a question

Showing papers in "Journal of Genetic Counseling in 2019"


Journal ArticleDOI
TL;DR: The common challenges experienced by parents of children with rare diseases as they navigate the healthcare system are illustrated and peer support was a key resource in terms of information and emotional support for parents who often begin their journey feeling isolated and alone.
Abstract: A disorder is considered a rare disease if it affects 1 in 2000, hence, while independently unique, collectively, these conditions are quite common. Many rare diseases are diagnosed during childhood, and therefore parents become primary caregivers in addition to their parental role. Despite the prevalence of rare diseases among children, there has been little research focused on parents' experiences of navigating the healthcare system, a gap we begin to address in this study. Guided by an interpretive description methodology, participants were recruited through online listservs and posting flyers at a pediatric hospital in Western Canada. Sixteen parents (15 mothers and 1 father) participated in in-depth, semi-structured interviews between April 2013 and March 2014. Data were analyzed inductively, generating the main study themes. Findings illuminated the challenges parents' experienced on their child's diagnostic journey-from seeking, to receiving, to adjusting to the rare disease diagnosis. Following diagnosis, gaps, and barriers to services resulted in parents pursuing services that could support their child's unique care needs, which often resulted in out-of-pocket payments and changes to employment. Parents found peer support, both online and in person, to be an effective resource. This study illustrates the common challenges experienced by parents of children with rare diseases as they navigate the healthcare system. Parents' role as "expert caregiver" was rarely acknowledged by healthcare providers, pointing to the need to foster more egalitarian relationships. As well, parents were burdened with the additional role of care coordinator, a role that could be filled formally by a healthcare provider. Lastly, peer support was a key resource in terms of information and emotional support for parents who often begin their journey feeling isolated and alone. Policies and programs are needed that validate the invisible care work of parents and ensure adequate formal supports are in place to mitigate potential sources of inequity for these families. Furthermore, genetic counselors can play a key role in ensuring parents' informational needs are addressed at the time of diagnosis and in connecting families who share common experiences regardless of the rare disease diagnosis.

91 citations


Journal ArticleDOI
TL;DR: The consent chatbot presents an engaging alternative to deliver content challenging to comprehend in traditional paper or in‐person consent and the cascade and follow‐up chatbots may be acceptable, user‐friendly, scalable approaches to manage ancillary genetic counseling tasks.
Abstract: A barrier to incorporating genomics more broadly is limited access to providers with genomics expertise. Chatbots are a technology-based simulated conversation used in scaling communications. Geisinger and Clear Genetics, Inc. have developed chatbots to facilitate communication with participants receiving clinically actionable genetic variants from the MyCode® Community Health Initiative (MyCode® ). The consent chatbot walks patients through the consent allowing them to opt to receive more or less detail on key topics (goals, benefits, risks, etc.). The follow-up chatbot reminds participants of suggested actions following result receipt and the cascade chatbot can be sent to at-risk relatives by participants to share their genetic test results and facilitate cascade testing. To explore the acceptability, usability, and understanding of the study consent, post-result follow-up and cascade testing chatbots, we conducted six focus groups with MyCode® participants. Sixty-two individuals participated in a focus group (n = 33 consent chatbot, n = 29 follow-up and cascade chatbot). Participants were mostly female (n = 42, 68%), Caucasian (n = 58, 94%), college-educated (n = 33,53%), retirees (n = 38, 61%), and of age 56 years or older (n = 52, 84%). Few participants reported that they knew what a chatbot was (n = 10, 16%), and a small number reported that they had used a chatbot (n = 5, 8%). Qualitative analysis of transcripts and notes from focus groups revealed four main themes: (a) overall impressions, (b) suggested improvements, (c) concerns and limitations, and (d) implementation. Participants supported using chatbots to consent for genomics research and to interact with healthcare providers for care coordination following receipt of genomic results. Most expressed willingness to use a chatbot to share genetic information with relatives. The consent chatbot presents an engaging alternative to deliver content challenging to comprehend in traditional paper or in-person consent. The cascade and follow-up chatbots may be acceptable, user-friendly, scalable approaches to manage ancillary genetic counseling tasks.

76 citations


Journal ArticleDOI
TL;DR: It is suggested that patients and the general public need access to culturally appropriate educational material about the use of genetic testing in precision medicine.
Abstract: Precision medicine has grown over the past 20 years with the availability of genetic tests and has changed the one-size-fits-all paradigm in medicine. Precision medicine innovations, such as newly available genetic tests, could potentially widen racial and ethnic disparities if access to them is unequal and if interest to use them differs across groups. The objective of this systematic review was to synthesize existing evidence on racial and ethnic differences in knowledge of and attitudes toward genetic testing among adult patients and the general public in the US, focusing on research about the use of genetic testing in general, not disease-specific tests. Twelve articles published in 1997-2017 met inclusion and exclusion criteria, with 10 including knowledge variables and seven including attitude variables. Studies found consistent patterns of lower awareness of genetic testing in general among non-Whites compared to Whites, lower factual knowledge scores among Blacks and Hispanics/Latinos, and mixed findings of differences in awareness of direct-to-consumer (DTC) genetic testing or the term precision medicine. Blacks, Hispanics/Latinos, and non-Whites generally had more concerns about genetic testing than Whites. The findings suggest that patients and the general public need access to culturally appropriate educational material about the use of genetic testing in precision medicine.

55 citations


Journal ArticleDOI
TL;DR: There is a need for continued research to assess the equivalency, accessibility, and role of telephone consultations across genetic services, and a diverse landscape of telehealth models being utilized to provide genetic services is observed.
Abstract: 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.

40 citations


Journal ArticleDOI
TL;DR: Despite growing evidence of diagnostic yield and clinical utility of whole exome sequencing in patients with undiagnosed diseases, there remain significant cost and reimbursement barriers limiting access to such testing.
Abstract: Background Despite growing evidence of diagnostic yield and clinical utility of whole exome sequencing (WES) in patients with undiagnosed diseases, there remain significant cost and reimbursement barriers limiting access to such testing. The diagnostic yield and resulting clinical actions of WES for patients who previously faced insurance coverage barriers have not yet been explored. Methods We performed a retrospective descriptive analysis of clinical WES outcomes for patients facing insurance coverage barriers prior to clinical WES and who subsequently enrolled in the Undiagnosed Diseases Network (UDN). Clinical WES was completed as a result of participation in the UDN. Payer type, molecular diagnostic yield, and resulting clinical actions were evaluated. Results Sixty-six patients in the UDN faced insurance coverage barriers to WES at the time of enrollment (67% public payer, 26% private payer). Forty-two of 66 (64%) received insurance denial for clinician-ordered WES, 19/66 (29%) had health insurance through a payer known not to cover WES, and 5/66 (8%) had previous payer denial of other genetic tests. Clinical WES results yielded a molecular diagnosis in 23 of 66 patients (35% [78% pediatric, 65% neurologic indication]). Molecular diagnosis resulted in clinical actions in 14 of 23 patients (61%). Conclusions These data demonstrate that a substantial proportion of patients who encountered insurance coverage barriers to WES had a clinically actionable molecular diagnosis, supporting the notion that WES has value as a covered benefit for patients who remain undiagnosed despite objective clinical findings.

40 citations


Journal ArticleDOI
TL;DR: The first structured analysis of patient perspectives of VUS‐related uncertainty in genome sequencing using Han's taxonomy of genomic uncertainty is reported, offering previously unreported insight into uncertainty management strategies used by patients which have the potential to guide clinical management practices.
Abstract: Variants of uncertain significance (VUS) are a well-recognized source of uncertainty in genomic medicine. Despite the existence of straightforward clinical management recommendations, patients report feeling anxiety, worry, and uncertainty in response to VUS. We report the first structured analysis of patient perspectives of VUS-related uncertainty in genome sequencing using Han's taxonomy of genomic uncertainty. We conducted in-depth semi-structured interviews with 11 patients to elicit their thoughts regarding implications of the result for themselves and their family members. Patients' primary concern with VUS-related uncertainty involved personal and practical issues as they directly inform health-care decisions. Patients demonstrated good understanding of the epistemic nature of VUS uncertainty-that information about such variant is currently unknown. However, between-provider discordance in explanations of the implication of this uncertainty for patients' diagnosis, prognosis, and therapy was a major contributor to the overall experience of uncertainty. Strategies for uncertainty reduction involved periodically checking back for reclassification and receiving concordant and clear recommendation from providers. Other proactive strategies of uncertainty reduction-such as information seeking and reading the genetic test report-were not helpful. Collectively, these findings offer previously unreported insight into uncertainty management strategies used by patients which have the potential to guide clinical management practices.

36 citations


Journal ArticleDOI
TL;DR: The 12-item FACToR with four subscales shows promising psychometric properties on preliminary evaluation in a limited sample and needs to be evaluated in other populations.
Abstract: The purpose of this study was to develop a brief instrument, the Feelings About genomiC Testing Results (FACToR), to measure the psychosocial impact of returning genomic findings to patients in research and clinical practice To create the FACToR, we modified and augmented the Multidimensional Impact of Cancer Risk Assessment (MICRA) questionnaire based on findings from a literature review, two focus groups (N = 12), and cognitive interviews (N = 6) We evaluated data from 122 participants referred for evaluation for inherited colorectal cancer or polyposis from the New EXome Technology in (NEXT) Medicine Study, an RCT of exome sequencing versus usual care We assessed floor and ceiling effects of each item, conducted principal component analysis to identify subscales, and evaluated each subscale’s internal consistency, test-retest reliability, and construct validity After excluding items that were ambiguous or demonstrated floor or ceiling effects, 12 items forming four distinct subscales were retained for further analysis: negative emotions, positive feelings, uncertainty, and privacy concerns All four showed good internal consistency (066–078) and test-retest reliability (065–091) The positive feelings and the uncertainty subscales demonstrated known-group validity The 12-item FACToR with four subscales shows promising psychometric properties on preliminary evaluation in a limited sample and needs to be evaluated in other populations

35 citations


Journal ArticleDOI
TL;DR: A better understanding of how the process of GC influences patient outcomes is provided and features of the process that maximize patient benefit are highlighted.
Abstract: Genetic counseling (GC) for individuals with mental illness (MI) has been shown to improve patient outcomes, such as increased empowerment and self-efficacy. However, we do not understand how the process of GC results in these improvements or what aspects of the process are critical. In this qualitative study, we explored the process and outcome of psychiatric GC from the patient's perspective. Ten Canadian adults with a diagnosed MI were interviewed prior to, and 1 month following, psychiatric GC. Interview transcripts were analyzed using Grounded Theory methodology and generated a theoretical framework that describes the process and outcomes of psychiatric GC from the patient's perspective. Participants described the counseling process to be an "empowering encounter" and identified specific attributes of the process and characteristics of the counselor that contributed to their empowerment. Participants gained a new perspective on the cause and management of their MI, which seemed to facilitate a deeper acceptance of their condition. Consequently, participants reported being empowered and feeling less shame, blame, and guilt; which reportedly made them more able to manage their MI and protect their mental health; and more open to talking about their condition with family and friends. This study provides a better understanding of how the process of GC influences patient outcomes and highlights features of the process that maximize patient benefit.

33 citations


Journal ArticleDOI
TL;DR: An electronic collection tool formatted in 15‐min increments for real‐time documentation of how the GC spent his/her time throughout the workday for one full week, based on a defined task list is developed.
Abstract: Genetic services have historically been time and labor intensive. Little information is known about the proportion of time genetic counselors (GCs) spend face-to-face with patients in comparison to the time spent on patient-related activities (PRA). We aimed to perform a real-time workflow study of GCs representing multiple clinics and specialties. We developed an electronic collection tool formatted in 15-min increments for real-time documentation of how the GC spent his/her time throughout the workday for one full week, based on a defined task list. Participants were Michigan GCs recruited via email solicitation. Sixteen of an estimated 70 patient-facing GCs (23%) representing prenatal, cancer, adult, and pediatric genetics took part by completing a demographic survey and the workflow study. The GCs reported spending approximately 20% of their time face-to-face with patients, 64% on PRA including case preparation, follow-up, and administrative tasks, and 16% on tasks unrelated to direct patient care. They saw a mean of 10 patients/week with a mean session length of 47 min. Approximately 3 hr of PRA were performed for the 0.78 hr (47 min) of face-to-face time with a patient. The most time-consuming task in the PRA category was letter writing. Identifying strategies to reduce the amount of time spent on PRA could increase the amount of available time GCs have to spend on providing face-to-face services and subsequently, the number of patients seen. Such efforts are critical to help meet the growing demand for genetic counseling services.

32 citations


Journal ArticleDOI
TL;DR: Couning issues discussed include providing pre‐ and posttest counseling in the medicalized NICU setting, facilitating informed decision‐making at a time of acute distress for families, and special considerations around the possibility of ultra‐rare diagnoses in neonates at the beginning of their diagnostic trajectory.
Abstract: As genomic sequencing has become available in pediatric clinical genetics settings, genetic counselors have been called upon to support individuals and families through the testing process. Technological and bioinformatic advancements, along with the availability of analytical expertise, have significantly reduced genomic sequencing turnaround times, enabling this powerful diagnostic tool to be used in neonatal intensive care units (NICUs) in place of or alongside traditional diagnostic strategies. It is important that pretest counseling for genomic sequencing prepares parents of critically unwell infants for the potential impacts of achieving a diagnosis, such as rare or ultra-rare diagnoses with limited disease-specific information, or the diagnosis of a life-limiting condition. Genetic counseling experiences and challenges arising in rapid genomic sequencing settings are yet to be discussed in the literature in detail. This paper uses illustrative cases as the basis to describe and discuss the emerging role of genetic counselors in NICU multidisciplinary care teams and the challenges and considerations which arise when facilitating ultra-rapid genomic diagnoses in acutely unwell neonates. Counseling issues discussed include providing pre- and posttest counseling in the medicalized NICU setting, facilitating informed decision-making at a time of acute distress for families, and special considerations around the possibility of ultra-rare diagnoses in neonates at the beginning of their diagnostic trajectory. As technology continues to drive practice, it is important genetic counselors remain abreast of these issues in order to appropriately support families through the genomic sequencing process and beyond.

31 citations


Journal ArticleDOI
TL;DR: A significant increase in empowerment and awareness of recommendations for at‐risk relatives as a result of CVGC is demonstrated, demonstrating the utility ofCVGC in patient care.
Abstract: Cardiovascular genetic counseling (CVGC) is recommended for a variety of inherited heart conditions; however, its impact on patient empowerment has not been assessed. The Genetic Counseling Outcome Scale (GCOS) is a validated patient reported outcome tool which measures empowerment to capture the impact of clinical genetics services. As a routine clinical practice at our center, adult patients attending a CVGC appointment complete the 24-item GCOS survey and a 5-item survey on knowledge of cardiac surveillance recommendations for relatives prior to the clinic visit. To investigate the effect of CVGC, we contacted participants after the appointment to repeat these surveys prior to genetic test result disclosure. Forty-two participants completed pre- and post-GC surveys. The mean difference between pre- and post-GC empowerment scores was 17.5 points (mean pre-GC score = 118.5, mean post-GC score = 136, p < 0.0001; effect size, d = 0.94). Forty percent of individuals (17/42) were aware of surveillance recommendations for at-risk family members prior to GC; this increased to 76% of individuals (32/42) post-GC (p < 0.01). This is the first study to explore patient empowerment before and after GC in a cardiology setting. The results demonstrate a significant increase in empowerment and awareness of recommendations for at-risk relatives as a result of CVGC. This study demonstrates the utility of CVGC in patient care.

Journal ArticleDOI
TL;DR: Group differences in familiarity, perceptions, and preferences for precision medicine in a diverse sample is described and group differences in patient perceptions across ethnic/racial groups are compared.
Abstract: A clear awareness of a patient’s knowledge, values, and perspectives is an important component of effective genetic counseling. Advances in precision medicine, however, have outpaced our understanding of patient perceptions of this new approach. Patient views may differ across the three domains of precision medicine (genetics, behavioral, and environmental determinants of health), ethnic/racial groups, and health literacy levels. This study describes and compares group differences in familiarity, perceptions, and preferences for precision medicine in a diverse sample. Between 2016 and 2017, 252 participants completed a 10–15-min survey in three primary care clinics in Florida and Tennessee. The final sample was 42.5% African American/Black, 25.8% Hispanic/Latino, 25.0% White, and 6.7% other ethnicity/race. Less than a quarter of participants reported being familiar with the term “precision medicine,” but were more familiar with basic genetic terms. Participants with higher health literacy reported greater familiarity with terms (p ≤ .003). African Americans/Black participants were more likely to identify ethnicity/race and discrimination as influencing their health (p ≤ .004). When deciding to get a genetic test, individuals across ethnic/racial groups shared similar considerations. Those with higher health literacy, however, gave significantly greater importance to provider trust (p ≤ .008). Given the recent emergence of precision medicine, at present there may be limited differences in patient perceptions across ethnic/racial groups. Culturally sensitive efforts, tailored to health literacy level, may aid equitable precision medicine uptake.

Journal ArticleDOI
TL;DR: This is the first national audit of clinical genetic healthcare professionals, revealing the Australian workforce is motivated and prepared to embrace new models to deliver genomic medicine but consideration of education and training is required to meet demand.
Abstract: We aimed to determine capacity and readiness of Australian clinical genetic healthcare professionals to provide genomic medicine. An online survey was administered to individuals with genetic counseling or clinical genetics qualifications in Australia. Data collected included: education, certification, continuing professional development (CPD), employment, and genetic versus genomic clinical practice. Of the estimated 630 clinical genetic healthcare professionals in Australia, 354 completed the survey (56.2% response rate). Explanatory interviews were conducted with 5.5% of the genetic counselor respondents. Those working clinically reported being involved in aspects of whole exome or genome sequencing (48.6% genetic counselors, 88.6% clinical geneticists). Most genetic counselors (74.2%) and clinical geneticists (87.0%) had attended genomics CPD in the last two years, with 61.0% and 39.1% self-funding, respectively. Genetic counselors desire broad involvement in genomics, including understanding classifying and interpreting results to better counsel patients. The majority of respondents (89.9%) were satisfied with their job and 91.6% planned to work in genetics until retirement. However, 14.1% of the genetic counselors in clinical roles and 24.6% of the clinical geneticists planned to retire within 10 years. This is the first national audit of clinical genetic healthcare professionals, revealing the Australian workforce is motivated and prepared to embrace new models to deliver genomic medicine but consideration of education and training is required to meet demand.

Journal ArticleDOI
TL;DR: Family identities were solidified through the incorporation of a pathogenic variant in family scripts, while members of the family who held differing views to their families expressed less agreeableness and openness to disseminate information.
Abstract: While family communication about a BRCA1 or BRCA2 (BRCA1/2) pathogenic variant can be a catalyst for the uptake of risk-reducing measures in young adults, disseminating information within families and across generations is complex. This study aimed to explore how young adults and their families communicate about a BRCA1/2 pathogenic variant, from a family systems perspective. In-depth family interviews and questionnaires (N = 67 individuals; 21 families) were completed at four metropolitan and regional genetic clinics in Australia. Data involved thematic analysis and interpretation based on family systems theory, including the use of standardized measures. Six key themes were identified and explored: (1) Responsibility to protect, (2) "It's a woman's problem," (3) Family culture influences communication, (4) Adversarial growth and connection, (5) Key events can be relational turning points, and (6) Health professionals can help. Family identities were solidified through the incorporation of a pathogenic variant in family scripts, while members of the family who held differing views to their families expressed less agreeableness and openness to disseminate information. The collective family's experience and perspective toward a pathogenic variant can influence a young adult's decision-making about genetic testing, risk-management, and family planning. The utilization of family therapy skills in routine practice would be helpful in facilitating communication and the inclusion of standardized measures is beneficial to identify individuals needing ongoing psychological support. Understanding relationship difficulties that arise from family members holding divergent views can offer insight into future research inquiry and areas of further training and clinical support.

Journal ArticleDOI
TL;DR: Novel findings are presented regarding the similarities and differences in parental opinions and decisions of these cohorts that includes pediatric patients with suspected genetic disease and outpatient trio‐based GWS.
Abstract: As genome-wide sequencing (GWS; exome sequencing [ES] and whole genome sequencing [WGS]) is implemented more frequently in the neonatal intensive care unit (NICU), it is important to understand parents' opinions regarding GWS, and views toward incidental findings (IFs) (also known as secondary findings). RAPIDOMICS was a pilot study of rapid trio-based (biological parents and neonate) ES for 25 neonates with a suspected genetic condition at the BC Women's Hospital NICU. As part of RAPIDOMICS, we explored parents' motivations and concerns regarding ES of their child, uptake of IFs for themselves, and rates of anxiety and depression at the time of pre-test genetic counseling via administration of the Generalized Anxiety Disorder Assessment 7 and Patient Health Questionnaire 8. These findings were compared to those from the Clinical Assessment of the Utility of Sequencing and Evaluation as a Service (CAUSES) study (outpatient trio-based GWS) that includes pediatric patients with suspected genetic disease (with an average age of 10 years). Parents in RAPIDOMICS were more likely to identify "diagnosis" as their primary motivation to pursue GWS (p = 0.011), less likely to identify "no concerns" (p = 0.003), and less likely to opt in to receive IFs (p = 0.003) than parents in CAUSES. Rates of depression and anxiety in both groups were higher relative to the general population. We present novel findings regarding the similarities and differences in parental opinions and decisions of these cohorts.

Journal ArticleDOI
TL;DR: Seven cases are presented that outline challenges that come from working with chronically undiagnosed and newly diagnosed patients in a time when sequencing for clinical diagnosis is rapidly increasing and illuminate the emotional journey of patients and families searching for a diagnosis and the mental health problems, financial distress, and chaos that can accompany not having answers.
Abstract: The "diagnostic odyssey" is well known and described in genetic counseling literature. Studies addressing the psychological, emotional, and financial costs of not having a diagnosis have shown how it permeates the lives of patients and families. The Undiagnosed Diseases Network aims to end this odyssey by providing diagnoses to individuals with undiagnosed conditions through multidisciplinary evaluations, whole exome and genome sequencing, and basic science research. It also provides an opportunity to learn from patients and families and to better understand their journeys and the impact of receiving a diagnosis. Seven cases are presented that outline challenges that come from working with chronically undiagnosed and newly diagnosed patients in a time when sequencing for clinical diagnosis is rapidly increasing. They illuminate the emotional journey of patients and families searching for a diagnosis and the mental health problems, financial distress, and chaos that can accompany not having answers. They also illustrate the surprising reactions patients and families can have to receiving a diagnosis, including anger, grief, and disappointment. While the lessons learned from these families are not novel, new strategies are presented for handling these challenges in undiagnosed and ultra-rare populations, groups that will increase with the rise of clinical sequencing.

Journal ArticleDOI
TL;DR: It is revealed that a lack of information about the child's condition continues to play a large role in these families' experiences even after diagnosis, and important issues care providers should address in pre‐ and post‐test genetic counseling for WES and whole genome sequencing are highlighted.
Abstract: Increased application of next generation sequencing has led to the discovery of a multitude of new neurodevelopmental syndromes, contributing to an increased diagnostic rate for exome sequencing from 25% originally to 40% currently. Owing to the recent recognition of these syndromes, as well as the types of large-scale studies (with limited phenotype information) often making these discoveries, these disorders may be poorly characterized clinically. As a result there is very limited information and disorder-specific support available to patients and families. We used a qualitative approach to explore how families experience a diagnosis of a new syndrome. We conducted semi-structured telephone interviews with parents and adult siblings of children who received a diagnosis of a new syndrome after whole exome sequencing (WES) performed through a translational research study. The interviews were recorded, transcribed verbatim, and transcripts were analyzed using grounded theory methods. Analysis of the 12 interviews revealed that a lack of information about the child's condition continues to play a large role in these families' experiences even after diagnosis. Almost all (92%) participants expressed ongoing uncertainty about their child's health and future. Most (83%) participants were interested in identifying other families with the same syndrome, which was related to both social support and seeking of information. Interestingly, 33% of participants worried about the child's risk for cancer due to their syndrome. Our results highlight some of the needs of families of children with new syndromes, and emphasize important issues care providers should address in pre- and post-test genetic counseling for WES and whole genome sequencing.

Journal ArticleDOI
TL;DR: This paper will review the setting before the guidelines were published, and empiric research and discussion that has occurred since, to best approach the current state of secondary findings in genomic medicine.
Abstract: The American College of Medical Genetics and Genomics (ACMG) recommendations for reporting of incidental (now "secondary") findings in clinical exome and genome sequencing (Green et al., Genet Med 15:565, 2013) is an often cited and sometimes misapplied professional guideline. To best approach the current state of secondary findings (SFs) in genomic medicine, and consider their impact, it is helpful to understand how and why the guideline was created. Of particular importance is the context - the state of the science and clinical practice during 2011-2012 when the guideline were initially developed. This paper will review the setting before the guidelines were published, and empiric research and discussion that has occurred since.

Journal ArticleDOI
TL;DR: DECIDE appears equivalent to genetic counseling at conveying information and was highly acceptable to the majority of study participants, many of whom indicated that it was useful to their decision-making.
Abstract: Clinical use of genome-wide sequencing (GWS) requires pre-test genetic counseling, but the availability of genetic counseling is limited We developed an interactive online decision-support tool, DECIDE, to make genetic counseling, patient education, and decision support more readily available We performed a non-inferiority trial comparing DECIDE to standard genetic counseling to assess the clinical value of DECIDE for pre-GWS counseling One hundred and six parents considering GWS for their children with epilepsy were randomized to conventional genetic counseling or DECIDE Following the intervention, we measured parents’ knowledge and empowerment and asked their opinions about using DECIDE Both DECIDE and conventional genetic counseling significantly increased parents’ knowledge, with no difference between groups Empowerment also increased but by less than 2% in each group Parents liked using DECIDE and found it useful; 81% would recommend it to others; 49% wished to use it along with a genetic counselor; 26% of parents preferred to see a genetic counselor; 7% preferred DECIDE alone; and 18% had no preference DECIDE appears equivalent to genetic counseling at conveying information In addition, it was highly acceptable to the majority of study participants, many of whom indicated that it was useful to their decision-making Use of DECIDE as a pre-test tool may extend genetic counseling resources

Journal ArticleDOI
TL;DR: In this article, a survey measuring family notification of FH risk information was administered to 38 parents of children with FH identified within a pediatric cardiology clinic, and the most common reason for notification was to protect relatives from heart disease.
Abstract: Familial hypercholesterolemia (FH) is severely underdiagnosed in the USA; yet, factors influencing family notification about risk for FH in the US pediatric setting have not been well elucidated. Most previous research on these factors has occurred in adult patient populations in European countries with organized cascade screening programs; therefore, we sought to characterize parent experiences with cascade screening in the US pediatric setting. A quantitative survey measuring family notification of FH risk information was administered to 38 parents of children with FH identified within a pediatric cardiology clinic. Participants were also asked if family notification was impacted by intrapersonal, interpersonal, institutional, community, and public policy factors identified previously in other populations. Notification of at least one of the proband’s living grandparents or aunts/uncles was reported by 76% (n = 25/33) and 71% (n = 24/34) of participants, respectively. The most common reason for notification was to protect relatives from heart disease. Two of the most common reasons participants did not notify relatives were a lack of information about FH and concern that the relative would have difficulty understanding the information. Yet, only a minority of participants (39%) accessed institutional resources such as educational materials to share with relatives or assistance drafting a family letter that could address these barriers. Based on the identified barriers and motivators for family communication, we suggest facilitators to improve implementation of cascade screening.

Journal ArticleDOI
TL;DR: Current tasks of GCAs in the United States, the appropriateness of those tasks, the perceived impact on the profession, and how these findings compared between genetic counselors with and without GCAs are explored to provide genetic counselors, their institutions, and the NSGC with a more generalizable understanding of current GCA roles on a national level, across specialties.
Abstract: Genetic counseling assistants (GCAs) have the potential to address the high demand for genetic counselors by promoting task-sharing, increasing genetic counselor efficiency, and allowing for higher level duties to be optimized by genetic counselors. However, little research has been published on the role of GCAs. This study explored current tasks of GCAs in the United States, the appropriateness of those tasks, the perceived impact on the profession, and how these findings compared between genetic counselors with and without GCAs. Full members of the National Society of Genetic Counselors (NSGC) with and without experience working with GCAs were recruited via the NSGC Student Research listserv to complete an online survey and 271 surveys were analyzed. Participants working in both clinical and laboratory settings and in all primary specialties reported working with GCAs (n = 131); GCAs were reported to frequently perform clerical tasks but were involved less often in clinical tasks such as calling patients with genetic test results. There was no difference between participants with GCAs and those without GCAs in tasks they reported GCAs are or may be performing, yet participants without GCAs believed GCAs performed more tasks on average than those with GCAs reported (p < 0.001). Participants did not differ on the appropriateness of tasks, reporting clerical tasks as more appropriate for GCAs than clinically involved tasks, with the exception of calling patients with variant of uncertain significance (VUS) results in which more participants working with GCAs reported it as an appropriate task (13%) than those without GCAs (4%; p < 0.05). Review of open-ended responses revealed themes pertaining to primary limitations, benefits, and concerns of the GCA role. The most commonly reported concern about GCAs was their poorly defined scope of practice (n = 182). Other reported limitations included a heavy workload, lack of training, and lack of experience for GCAs while the benefits of working with GCAs included increased time available for higher level duties, patient volumes, and efficiency. These data provide genetic counselors, their institutions, and the NSGC with a more generalizable understanding of current GCA roles on a national level, across specialties. Additionally, these data may help establish a scope of practice for GCAs by creating a baseline job description for genetic counselors and their institutions interested in implementing a GCA into their practice to increase patient access to genetic counseling services. It is recommended that further research objectively quantify the value added by GCAs using efficiency metrics and further clarify the role of laboratory GCAs.

Journal ArticleDOI
TL;DR: These challenges are defined using illustrative case examples that highlight the importance of including GCs to support rES programs, and laboratory and clinical GCs encountered significant challenges in the coordination of this testing.
Abstract: Exome sequencing (ES) has revolutionized molecular diagnosis in children with genetic disease over the past decade. However, exome sequencing in the inpatient setting has traditionally been discouraged, in part due to an increased risk of providers failing to retrieve and act upon results, as many patients are discharged before results return. The development of rapid turn-around-times (TATs) for genomic testing has begun to shift this paradigm. Rapid exome sequencing (rES) is increasingly being used as a diagnostic tool for critically ill infants with likely genetic disease and presents significant challenges to execute. We implemented a program, entitled the Rapid Inpatient Genomic Testing (RIGhT) project, to identify critically ill children for whom a molecular diagnosis is likely to change inpatient management. Two important goals of the RIGhT project were to provide appropriate genetic counseling, and to develop protocols to ensure efficient test coordination- both of which relied heavily on laboratory and clinic-based genetic counselors (GCs). Here, rES was performed on 27 inpatient trios from October 2016 to August 2018; laboratory and clinical GCs encountered significant challenges in the coordination of this testing. The GCs involved retrospectively reviewed these cases and identified three common challenges encountered during pretest counseling and coordination. The aim of this paper is to define these challenges using illustrative case examples that highlight the importance of including GCs to support rES programs.

Journal ArticleDOI
TL;DR: Findings point to opportunities for the field of genetic counseling to enhance services for transgender patients by reporting distinctive situations that may arise in clinic with these patients and providing training recommendations for genetic counselors.
Abstract: It is becoming increasingly common for people to openly identify as transgender, yet there is little research in the field of genetic counseling regarding this community's unique medical needs. Transgender patients are likely to present with issues that cross genetics and gender-related care in a cancer genetic counseling session, and empiric data about these differences is needed to provide adequate care. In order to investigate what specific health topics and concerns are addressed in cancer genetic counseling sessions with transgender patients, 21 cancer genetic counselors who have seen transgender patients were interviewed. Through inductive analysis, six themes emerged: (1) documentation systems are not inclusive or clear; (2) genetic counselors feel unprepared for these sessions; (3) gender affirming hormones impact risk assessment; (4) genetic testing affects gender affirming surgical decisions; (5) transgender patients present at younger ages to clinic; and (6) pathogenic variants allow for insurance coverage for gender affirming surgeries. This study's findings point to opportunities for the field of genetic counseling to enhance services for transgender patients by reporting distinctive situations that may arise in clinic with these patients and providing training recommendations for genetic counselors.

Journal ArticleDOI
TL;DR: It is proposed that rather than using the term “actionable” alone, providers should also say “what they mean” to reduce miscommunication and confusion that could negatively impact medical decision-making.
Abstract: In genomic medicine, the familiarity and inexactness of the term "actionable" can lead to multiple interpretations and mistaken beliefs about realistic treatment options. As part of a larger study focusing on public attitudes toward policies for the return of secondary genomic results, we looked at how members of the lay public interpret the term "medically actionable" in the context of genetic testing. We also surveyed a convenience sample of oncologists as part of a separate study and asked them to define the term "medically actionable." After being provided with a definition of the term, 21 out of 60 (35%) layperson respondents wrote an additional action not specified in the provided definition (12 mentioned "cure" and 9 mentioned environment or behavioral change) and 17 (28%) indicated "something can be done" with no action specified. In contrast, 52 surveyed oncologists did not mention environment, behavioral change, or cure. Based on our findings, we propose that rather than using the term "actionable" alone, providers should also say "what they mean" to reduce miscommunication and confusion that could negatively impact medical decision-making. Lastly, to guide clinicians during patient- provider discussion about genetic test results, we provide examples of phrasing to facilitate clearer communication and understanding of the term "actionable."

Journal ArticleDOI
TL;DR: Insight is provided into a process by which patients translate uncertain genetic testing results into a construct that fits within their current belief framework and which may be facilitated by a genetic counselor.
Abstract: Variants of uncertain significance (VUSs) are often disclosed to patients despite ambiguous association with disease risk and lack of clinical actionability. It is important to understand how patients understand a VUS result, but few studies have assessed this. Our qualitative study explored patient recall, reaction to, and interpretation of a VUS in the context of multigene panels. We conducted 11 semi-structured phone interviews with adults who had a VUS identified on multigene panel testing in a hereditary oncology clinic, with questions focusing on the VUS result, personal and family history, and motivations for and expectations of genetic testing. Transcripts were coded iteratively, using both deductive and inductive codes. Overall, participants usually recalled that they had a VUS, despite variation in the vocabulary used. Participants responded both emotionally and intellectually to receiving information about having a VUS, which was often a result of their expectations and motivations prior to testing. Overall, participants understood the lack of clinical significance of a VUS, yet often interpreted the etiologic significance of a VUS within the context of the personal and family history. Our study provides insight into a process by which patients translate uncertain genetic testing results into a construct that fits within their current belief framework and which may be facilitated by a genetic counselor.

Journal ArticleDOI
TL;DR: This article looks just over a decade into the future—to 2030—to provide a description of how the field of genetics and genetic counseling will be changed, as well as advice for genetic counselors for how to prepare.
Abstract: The practice of genetic counseling is going to be impacted by the public's expectation that goods, services, information, and experiences happen on demand, wherever and whenever people want them. Building from trends that are currently taking shape, this article looks just over a decade into the future-to 2030-to provide a description of how the field of genetics and genetic counseling will be changed, as well as advice for genetic counselors for how to prepare. We build from the prediction that a large portion of the general public will have access to their digitized whole genome sequence anytime, any place, on any device. We focus on five topics downstream of this prediction: public health, personal autonomy, polygenic scores (PGS), evolving clinical practices, and genetic privacy.

Journal ArticleDOI
TL;DR: Three cases are presented that exemplify elements complicating consent counseling for WES/WGS in the ICU, including the emotional state of the parents, involvements of other healthcare providers, environmental distractions and competing clinical priorities.
Abstract: Whole exome and whole genome sequencing (WES/WGS) is increasingly utilized in inpatient settings such as neonatal and pediatric intensive care units (ICU), but no research has explored the process of informed consent in this setting. My experience as an inpatient genetic counselor has illuminated factors unique to the ICU that may threaten elements of informed consent such as voluntariness, disclosure, understanding, and capacity. I present three cases that exemplify elements complicating consent counseling for WES/WGS in the ICU, including the emotional state of the parents, involvements of other healthcare providers, environmental distractions and competing clinical priorities. I offer strategies to navigate these factors based on my experience.

Journal ArticleDOI
TL;DR: The psychosocial impact of receiving a VUS from pediatric WES on caregivers is explored and implications for clinical practice are identified to help guide pre‐ and post‐WES counseling in the future.
Abstract: Despite its promising diagnostic yield, whole exome sequencing (WES) frequently introduces variant(s) of uncertain significance (VUS), which have been speculated to cause parental stress and anxiety. This study aimed to explore the psychosocial impact of receiving a VUS from pediatric WES on caregivers and to identify implications for clinical practice. Fourteen telephone interviews were conducted with parents or legal guardians who received VUS results from their child's WES to assess their understanding of the result, affective responses, perceived impact, and adaptation. Our content analysis showed that most participants had a good understanding of the purpose of the test and the majority of them recalled the result category. Most participants deemed the result had no impact thus far on their perception of their child's condition. However, one participant reported feelings of fear related to the VUS. Most participants experienced a range of emotions from receiving the result. The majority of participants reported that this result did not significantly alter their child's care or their ability to take care of their child, and three participants reported empowerment. Additionally, several participants expressed an interest in research studies and peer support groups dedicated to families with a VUS identified on WES. Our study elicited new information about the psychosocial impact of receiving a VUS from WES. This insight may help to guide pre- and post-WES counseling in the future.

Journal ArticleDOI
TL;DR: Health professionals treating and investigators enrolling members from families with ADAD cannot assume that they fully understand the nature of the illness; therefore, providers should provide comprehensive information about ADAD and genetic testing.
Abstract: Trials to prevent autosomal dominantly inherited Alzheimer's disease (ADAD) are critical and timely. However, cultural beliefs about AD and genetic testing may preclude informed consent and participation, especially among racial/ethnic minorities. This mixed-methods study examines cultural beliefs about AD and genetic screening among at-risk populations of Mexican heritage. We surveyed 86 Mexican and 37 Mexican-American family members of patients with ADAD and interviewed 18 respondents in Mexico to explore perceptions and knowledge regarding AD and genetic testing. While most respondents understood that AD is inherited in their families, they also had limited understanding of the genetic mechanisms behind AD. Many believed that AD is a normal part of aging or that it is a mental illness caused by bad habits. However, beliefs that AD is caused by a curse or God's will were uncommon. The interviews demonstrated that very few at-risk respondents understood their own risk for harboring the mutation causing AD in their family. Once informed, most expressed a strong interest in genetic testing, largely motivated by the desire to be better prepared for the development of AD. Health professionals treating and investigators enrolling members from families with ADAD cannot assume that they fully understand the nature of the illness; therefore, providers should provide comprehensive information about ADAD and genetic testing.

Journal ArticleDOI
TL;DR: Patients’ perceptions of their prenatal genetic counseling session, with a focus on their relationship with their GC and how factors inside and outside the session influenced their decision‐making about amniocentesis are explored.
Abstract: Despite much theory about how genetic counseling facilitates prenatal decision-making, there are limited data regarding patients' perceptions of the process and the role of the genetic counselor (GC). Our aim in this study was to explore patients' perceptions of their prenatal genetic counseling session, with a focus on their relationship with their GC and how factors inside and outside the session influenced their decision-making about amniocentesis. We performed a qualitative study with patients who had seen a GC after maternal serum screening revealed an increased risk for aneuploidy. Semistructured interviews were transcribed verbatim, and analyzed using a constant comparative method. To complement and triangulate with these data, we used a secondary quantitative measure-the 6-item Satisfaction With Decision-making (SWD) scale, and questionnaires completed by participants' GCs. Eleven patients participated and four predominant themes emerged from our data: (1) being unprepared; (2) recognizing responsibility for decision-making; (3) the burden of responsibility; and (4) the impact of support through affirmation. Despite the underlying tension within these themes, patients reported high satisfaction with their decisions (SWD mean score = 28.5/30, range: 26-30). Patients perceived their GCs to be nonbiased yet supportive in the decision-making process. Patients described feeling affirmed, but not swayed in their decision.