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There are 10 gene therapies (GTs) for hereditary conditions that are currently approved by the Food and Drug Administration (FDA). While prior research demonstrates that the majority of healthcare providers lack knowledge regarding GTs, this has not been explored within the genetic counseling profession. The authors hypothesize that the availability of GTs impacts the genetic counseling profession and that there is variable awareness on this topic among genetic counselors (GCs). We conducted a survey to assess GCs' familiarity with, comfort with, and frequency of discussing FDA-approved GTs at the time of the survey, as well as GCs' perceived impact of and educational experiences related to GT. The survey was distributed through listservs and word of mouth from January through March 2021. One hundred of the 109 responses met eligibility criteria. Respondents were more familiar with onasemnogene abeparvovec-xioi (ZOLGENSMA; Novartis Gene Therapies, Inc., Durham, NC, USA) than voretigene neparvovec-rzyl (LUXTURNA; Spark Therapeutics, Inc., Philadelphia, PA, USA; p < 0.001). Familiarity with, comfort with, and frequency of discussing both GTs varied by specialty but not by years of experience. Fifty-nine percent of respondents (58/98) reported that GTs impact their work, with differences by specialty but not by years of experience. The majority of respondents (93%; 90/97) felt that GCs should be comfortable discussing GTs with patients, and most respondents (83%; 79/95) were interested in additional GT training. Only 38% of respondents (36/95) recalled GT being included in their genetic counseling training program's curriculum, which may be skewed by recent growth of this field. Our results suggest that GCs feel that GTs impact their practice, have discrepant awareness and comfort in this area, and desire additional training on this topic. Further investigation into the actual impact and models for addressing training is warranted and will be critical as the number of approved GTs increases.
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Epilepsy is a common, and often genetic, neurological disorder. Few guidelines exist to help medical providers or insurance companies decide when to order or cover epilepsy panels for patients with epilepsy. The most recent guidelines were published by NSGC after this study's data collection. Since 2017, the Genetic Testing Stewardship Program (GTSP) at UPMC Children's Hospital of Pittsburgh (CHP) has been utilizing a set of internally developed epilepsy panel (EP) testing criteria to facilitate appropriate EP ordering practices. The purpose of this study was to assess these testing criteria by determining their sensitivities and positive predictive values (PPV). Retrospective chart review of the electronic medical record (EMR) was performed for 1242 CHP Neurology patients that were evaluated for a primary diagnosis of epilepsy between 2016 and 2018. One hundred and nine patients had EPs at various testing laboratories. Of the patients that met criteria, 17 had diagnostic EPs and 54 had negative EPs. Criteria were organized into category groupings (C1-C4), and analyzed alone for C1, in pairs for C2, etc. The highest sensitivity and PPV results in each category grouping were: C1 (64.7%, 60%); C2, (88%, 30.3%); C3, (94.1%, 27.1%); C4, (94.1%, 25.4%). Family history was crucial to increasing sensitivity. Confidence intervals (CIs) narrowed as category grouping level increased, though this was not statistically significant due to the considerable CI overlap across category groupings. The PPV from C4 was applied to the untested population cohort and predicted 121 patients with unidentified positive EPs. This study presents data supporting the predictive capabilities of EP testing criteria and suggests the addition of a family history criterion. This study impacts public health by encouraging the adoption of evidence-driven insurance policies and by suggesting guidelines to ease EP ordering and coverage decisions, which could potentially improve patient access to EP testing.
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Graduation from a genetic counseling graduate program accredited by the Accreditation Council of Genetic Counseling and certification obtained by passing the American Board of Genetic Counseling (ABGC) certification examination are increasingly required to practice as a genetic counselor in the USA. Despite the ABGC certification examination serving as a gateway to the genetic counseling career, there have been no research studies to date that have examined what variables are associated with examination performance. Therefore, the Association of Genetic Counseling Program Directors established a Task Force to assess whether trainee demographics, Grade point average (GPA) and Graduate Record Exam (GRE®) percentile scores are associated with passing the ABGC certification examination on the first attempt. We surveyed accredited genetic counseling graduate programs in North America and gathered demographic data, admissions variables, and certification examination outcome data for 1,494 trainees from 24 training programs, representing approximately 60.5% of matriculants between 2007 and 2016. Univariable analysis was performed to assess associations between admissions variables and categorical outcome (pass vs. fail) on the certification examination using Wilcoxon rank-sum or Fisher's exact test. Variables significantly associated with the categorical board outcome were then entered in a stepwise model selection procedure. In stepwise logistic regression, trainees with higher GPA (OR = 3.41; 95% CI = 1.99, 5.83), higher verbal (OR = 1.02; 95% CI = 1.01, 1.03) and quantitative (OR = 1.02; 95% CI = 1.01, 1.03) GRE® scores, female trainees (OR = 2.95; 95% CI = 1.70, 5.12), and White trainees (OR 3.37; 95% CI = 2.14, 5.30) had higher odds of passing the certification examination on the first attempt. As programs move to a holistic approach to graduate admissions in order to improve access to the genetic counseling profession, our results may influence programs to provide additional preparation for the certification examination for all trainees. In addition, genetic counseling professional organizations should continue to work together to assess and eliminate outcome disparities in admissions, training, and certification processes.
Assuntos
Conselheiros , Aconselhamento Genético , Acreditação , Certificação , Demografia , Feminino , Humanos , Estados UnidosRESUMO
The identification of patient outcomes unique to the field of genetic counseling has become a recent priority of the profession. Current health-care efforts have targeted patient engagement as an outcome capable of improving population health and reducing health-care costs. This study analyzed patient engagement levels among 182 participants who underwent genetic counseling for gastrointestinal (GI) cancer risk assessment in an outpatient specialty clinic. Patients seen at the UPMC Hereditary GI Tumor Program completed a validated patient engagement measure, the Altarum Consumer Engagement (ACE), prior to undergoing genetic counseling and again three months after enrollment. Paired t test analysis was conducted to assess the changes in Total ACE scores, and within the following three domains: Navigation, Informed Choice, and Commitment. In the sample of 182 participants, Total ACE scores increased after genetic counseling (by 5.7%; p < .0001), as did all three domains (Commitment p = .0008; Navigation p = .0008; and Informed Choice p = .0016). This study is the first known report of patient engagement levels in individuals undergoing genetic counseling in a specialty cancer clinic and suggests that genetic counseling improves patient engagement levels.
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Aconselhamento Genético/psicologia , Neoplasias/terapia , Participação do Paciente , Adulto , Feminino , Humanos , Masculino , Pessoa de Meia-IdadeRESUMO
Since the Human Genome Project's completion in 2003, the need for increased population genetic literacy has grown exponentially. To address this need, public health professionals must be educated appropriately to serve the public best. This study examines the current state of public health genetics education within existing master of public health (MPH) programs. A total of 171 MPH Council on Education for Public Health Accreditation (CEPH)-accredited programs across the nation were identified via a preliminary internet search. The American Public Health Association (APHA) Genomics Forum Policy Committee created 14 survey questions to assess the current status of incorporating genetics/genomics education within MPH programs. Using the Qualtrics survey system through the University of Pittsburgh, a link to the anonymous survey was sent to each director's email address obtained from their program's website. There were 41 survey responses, with 37 finished to completion, for a response rate of 21.6% (37/171). A total of 75.7% (28/37) of respondents reported having courses containing genetics/genomics information in their programs' coursework. Only 12.6% reported such coursework to be required for program completion. Commonly listed barriers to incorporating genetics/genomics include limited faculty knowledge and lack of space in existing courses and programs. Survey results revealed the incongruous and limited incorporation of genetics/genomics within the context of graduate-level public health education. While most recorded programs report offering public health genetics coursework, the extent and requirement of such instruction are not considered necessary for program completion, thereby potentially limiting the genetic literacy of the current pool of public health professionals.
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Acreditação , Saúde Pública , Humanos , Saúde Pública/educação , Inquéritos e Questionários , EscolaridadeRESUMO
PURPOSE: With limitations in early detection and poor treatment response, ovarian cancer is associated with significant morbidity and mortality. Up to 25% of epithelial ovarian cancer (EOC) is related to a hereditary predisposition. Current National Comprehensive Cancer Network guidelines recommend that all individuals diagnosed with EOC be offered germline genetic testing. Although this would ideally be performed by genetics professionals, a shortage of genetic counselors can affect timely access to these services. This study sought to investigate the current genetic testing practices of oncology providers to determine the feasibility of oncologist-led genetic testing for patients with EOC. METHODS: A survey was distributed to members of the Society of Gynecologic Oncologists with questions regarding timing, frequency, and type of cancer genetic testing, referrals to genetics professionals, confidence with aspects of genetic testing, and any barriers to these processes. RESULTS: We received 170 evaluable responses. Eighty-five percent of providers always ordered genetic testing for patients with EOC. Most providers ordered germline multigene panel testing (95.8%), generally at diagnosis (64.5%). Provider confidence with the genetic testing process was generally high and significantly differed by providers' testing practices, namely, respondents who reported always ordering genetic testing tended to be more confident in ordering testing (P = .008), interpreting results (P = .005), and counseling a patient (P = .002). Patient disinterest and concerns for insurance coverage were commonly cited as barriers to testing and referrals. CONCLUSION: The findings from this study suggest that oncologist-led genetic testing for patients with EOC, with referrals to genetics professionals when appropriate, has the potential to be a viable alternative service delivery model to increase access to genetic testing for patients diagnosed with EOC.
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Carcinoma Epitelial do Ovário/diagnóstico , Carcinoma Epitelial do Ovário/genética , Testes Genéticos , Oncologia , Neoplasias Ovarianas/diagnóstico , Neoplasias Ovarianas/genética , Padrões de Prática Médica , Adulto , Idoso , Feminino , Pesquisas sobre Atenção à Saúde , Humanos , Pessoa de Meia-IdadeRESUMO
OBJECTIVE: The Affordable Care Act requires most health plans to cover the federal Recommended Uniform Screening Panel of newborn screening (NBS) tests with no cost sharing. However, state NBS programs vary widely in both the number of mandated tests and their funding mechanisms, including a combination of state laboratory fees, third-party billing, and other federal and state funding. We assessed the potential impact of the Affordable Care Act coverage mandate on states' NBS funding. METHOD: We performed an extensive review of the refereed literature, federal and state agency reports, relevant organizations' websites, and applicable state laws and regulations; interviewed 28 state and federal officials from August to December 2014; and then assessed the interview findings manually. RESULTS: Although a majority of states had well-established systems for including laboratory-based NBS tests in bundled charges for newborn care, billing practices for critical congenital heart disease and newborn hearing tests were less uniform. Most commonly, birthing facilities either prepaid the costs of laboratory-based tests when acquiring the filter paper kits, or the facilities paid for the tests when the kits were submitted. Some states had separate arrangements for billing Medicaid, and smaller facilities sometimes contracted with hearing test vendors that billed families separately. CONCLUSION: Although the Affordable Care Act coverage mandate may offset some state NBS funding for the screenings themselves, federal support is still required to assure access to the full range of NBS program services. Limiting reimbursement to the costs of screening tests alone would undermine the common practice of using screening charges to fund follow-up services counseling, and medical food or formula, particularly for low-income families.