Patient experiences in receiving telegenetics care for inherited cardiovascular diseases.

Telegenetics played an important role in providing genetic services to patients during the COVID-19 pandemic. In particular, at our institution, it enabled us to expand our genetic counseling and testing services to non-local family members of patients outside of our prior catchment area. However, as telegenetics continues to be utilized even as social distancing is no longer required, further information is needed regarding the impact of this modality on patient experience within cardiogenetics. This study qualitatively explored the experiences of 12 genotype positive individuals who underwent genetic counseling and testing via telegenetics during the first 22 months of the COVID-19 pandemic and compared the experiences of local vs. non-local patients. Both local and non-local participants discussed similar benefits and drawbacks to the use of technology in telegenetics and overall found the use of telegenetics and at-home genetic testing to be convenient. Both groups also noted having to make changes in their daily lives and future planning as a consequence of the positive genetic testing results. However, access to follow-up care differed between local and non-local participants, with more local participants having scheduled and attended appointments with the appropriate medical providers compared to non-local participants. Supplying non-local patients access to remote cardiogenetic testing may therefore require careful consideration in how to ensure proper follow-up care for genotype positive patients and may necessitate the involvement of national professional or patient-centered organizations to help streamline the referral process.

Addressing the underdiagnosis of familial hypercholesterolemia: A mixed methods study exploring the knowledge and practice behaviors of cardiology healthcare providers.

Background: Familial hypercholesterolemia (FH) is vastly underdiagnosed and causes an increased risk for sudden cardiac death. Cardiology providers (CHCPs) are in an ideal position to care for FH patients. This research aimed to understand the practice behaviors of CHCPs in the screening, diagnosis, and management of FH. Methods: Adaptation of an existing FH knowledge tool guided survey development. The results of the quantitative survey guided development of the interview protocol. CHCPs were recruited in the Division of Cardiology at Columbia University Irving Medical Center (CUIMC). A review of the educational materials offered by the Division of Cardiology was conducted to identify FH knowledge domains presented. Results: CHCPs with MDs, at CUIMC for 6-10 years, in clinical practice for 1-5 years, and in inpatient services had the highest average total knowledge scores. CHCPs with RNs, at CUIMC for less than 1 year, in clinical practice for 6-10 years, and in Cath Lab had the lowest average knowledge scores. Four themes emerged - variability in FH care; issues related to addressing FH at institutional, practice setting, and individual levels; importance of identifying FH early; and intervention approaches to overcome barriers to caring for FH patients in cardiology. CHCPs with MDs or with experiential FH knowledge described FH care beyond screening. The document review revealed that only MDs were provided lectures pertaining to FH. Conclusions: Future interventions should increase didactic and experiential FH knowledge incorporating institutional, local, and national FH resources. Improving FH care can reduce FH-related morbidity and mortality, as well as improve FH health outcomes.

The use of telemedicine in cardiogenetics clinical practice during the COVID-19 pandemic.

BACKGROUND: The COVID-19 pandemic has necessitated the rapid and widespread adoption of novel mechanisms of service delivery, including the use of telemedicine. The aim of this study was to examine the impact of COVID-19 on cardiogenetics practices. METHODS: We retrospectively analyzed the clinical characteristics of patients who were seen for cardiogenetics visits pre-pandemic (1 April-23 December 2019) and during the pandemic (1 April-23 December 2020) at Columbia University Irving Medical Center. RESULTS: Six percent (n = 6) of visits in 2019 were remote telemedicine encounters, whereas 80% (n = 106) of visits in 2020 were telemedicine encounters. In 2019, only 18% (n = 19) of the patients seen for genetic counseling were family members of probands; this percentage increased to 34% in 2020 (n = 45; p = .01). In 2020, the geographic reach of genetic counseling also extended far beyond New York State, reaching a total of 11 states as well as one patient in Puerto Rico. Genetic testing results were similar in 2019 and 2020. CONCLUSION: Despite the health-care delivery barriers created by the COVID-19 pandemic, the use of telemedicine allowed us to expand the reach of cardiovascular genetic counseling and testing.

"Watching the tsunami come": A case study of female healthcare provider experiences during the COVID-19 pandemic.

As health systems rapidly respond to COVID-19, it is unclear how these changes influence the experiences and well-being of female healthcare providers (FHCPs), including the potential for FHCPs to develop compassion fatigue and secondary traumatic stress. We conducted qualitative interviews (n = 15) with FHCPs at three locations (Washington, California, and New York). Interviews explored FHCP's perspectives on how care delivery changed, processes of information delivery and decision-making, gender inclusion, and approaches to managing stress and well-being. An inductive coding process was used to generate themes. FHCPs described significant changes to the way they delivered care, and their work environments, during the COVID-19 pandemic. Five themes emerged that characterized the experiences of FHCPs during COVID-19, including conflicting feelings while providing care, managing information and decisions, balancing roles, coping and well-being, and considerations for moving forward. FHCPs experienced many impacts to their professional and personal lives during COVID-19 that further complicated their ability to manage stress and well-being. The themes identified through this work offer important lessons about how to support the well-being of FHCPs and signify the widespread potential for compassion fatigue among FHCPs as a result of COVID-19.

Cases in Precision Medicine: Genetic Assessment After a Sudden Cardiac Death in the Family.

Sudden death in a family is associated with serious anxiety among family members. Assessing the cause of death may help determine the risk for other family members, thus alleviating some anxiety. In some cases, the cause of death may be evident on autopsy; however, in cases of arrhythmias, standard autopsy will not reveal the cause of death. Evaluation of the circumstances of death, medical history of the deceased, and results of genetic testing may reveal a diagnosis. Once a diagnosis is made, relatives should receive genetic testing and clinical assessment to stratify their risk. Depending on their risk, various interventions are available, including medication, defibrillators, and lifestyle modifications.

Patient Perspectives on Intimate Partner Violence Discussion during Genetic Counseling Sessions.

Intimate partner violence (IPV) is a major health concern in the United States (ACOG 2013). The World Health Organization (WHO) describes IPV as any physical, sexual, psychological harm by a current or former intimate partner (WHO 2016). Due to the psychosocial depth and nature of discussions within genetic counseling sessions, patients may disclose and/or discuss IPV as it relates to sexual well-being, reproductive and overall health. This study aims to assess the role for IPV screening, counseling and intervention in genetic counseling practice by investigating the incidence, experiences and attitudes about IPV among genetic counseling patients. Patients receiving genetic counseling at an urban metropolitan hospital were anonymously surveyed about experiences and perspectives on IPV as a topic of discussion during genetic counseling sessions. Among 60 eligible patients, 50 completed the survey (49 females, 1 male, of which, 5 identified as LGBT) ages 20 to 66. The incidence of IPV in this group was 16.0 % (n = 8). Majority of participants had never been asked about IPV by a healthcare provider (n = 32; 64.0%), would have felt comfortable answering questions about IPV by their healthcare provider (n = 34; 68.0%), and would have felt comfortable answering questions about IPV by their genetic counselor (n = 39; 78.0%). Perspectives from all participants, notably those with IPV history, provided insights to the role of genetic counselors in areas for IPV screening and counseling training.

Chromosomal microarray in prenatal diagnosis: case studies and clinical challenges.

Chromosomal microarray analysis (CMA) is a diagnostic tool used in the evaluation of pediatric patients with congenital anomalies or developmental and intellectual disability. In both the pediatric and prenatal patient population, CMA has been shown to have a higher detection rate of chromosomal abnormalities than conventional karyotype alone. Currently, the diagnostic yield of prenatal CMA is highest when applied to the evaluation of a fetus with multiple ultrasound anomalies. Challenges arise when CMA yields isolated findings not associated with a phenotype on ultrasound or variants of uncertain significance, which warrants evaluation of the risks, benefits, limitations and optimal incorporation of CMA into prenatal care. The clinical cases presented here will be used to illustrate these issues.

Disclosing Genetic Information to Family Members About Inherited Cardiac Arrhythmias: An Obligation or a Choice?

Inherited cardiac arrhythmias such as long QT syndrome and Brugada syndrome, present clinical as well as ethical, legal, and social challenges. Many individuals who carry a deleterious mutation are largely asymptomatic and therefore may not be diagnosed until after the occurrence of a personal or family member's cardiac event. The familial nature of inherited genetic information raises numerous ethical, legal, and social issues regarding the sharing of genetic information, particularly when an individual found to carry a deleterious mutation refuses to disclose his or her results to at-risk family members who could benefit from life-saving treatments. This qualitative study sought to understand the experiences with genetic testing for individuals (n = 50) with a personal or family history of cardiac events or sudden death. Unstructured in-person focus groups or interviews were conducted for each participant in the study. The recordings of these interviews were transcribed verbatim and subsequently analyzed and coded. Participants' comments regarding sharing of genetic information centered around four main themes: (1) motivation to disclose; (2) extent of disclosure; (3) effect of disclosure on family dynamics; and (4) reasons for not sharing genetic information. The majority of individuals believed that affected individuals are obligated to disclose genetic information to family members. In the era of personalized medicine, the disclosure of genetic information provides individuals the opportunities to learn about the genetics, disease characteristics, and treatment options in order to reduce morbidity and mortality in themselves and their family members. Further research is necessary to identify and explore the barriers to sharing genetic information with at-risk family members.