Survey Of Genetic Counselors Research Articles

Are genetic counselors prepared to counsel active-duty service members? A survey of genetic counselors' self-efficacy, counseling techniques, and knowledge of military policy.

Given the expected rise in genomic sequencing projects within the US Military and the increased availability of genetic testing to the United States as a whole, current and prospective active-duty service members (SMs) may undergo genetic counseling services in the civilian sector for pre-test and post-test counseling. The overall goal of this study was to better understand genetic counselors' preparedness to address military-specific policies and psychosocial needs of patients from this underrepresented population. Members of the National Society of Genetic Counselors were asked to complete a four-part survey including demographic information, Likert scale questions to separately rate self-efficacy when working with civilians and SMs, case scenarios with multiple-choice options and open-ended responses to assess knowledge of military policy, and open-ended questions regarding psychosocial scenarios related to military service. Eighty-eight responses were analyzed using Microsoft Office Excel for the qualitive thematic analysis and SPSS/RStudio for the quantitative data. While over 75% (n=69/88, SD=0.48) of surveyed genetic counselors scored 4 of 4 on knowledge of military policy and reported similarly high levels of self-efficacy when working with SMs (mean=26.77 out of 30, SD=4.15) and the general population (mean=27.99 out of 30, SD=4.31), the qualitative data suggested an alternative perspective. Up to 57% (n=50/88) of responses were scored as expressing low confidence concerning knowledge of military policy. One potential explanation for this uncertainty may be due to participants reporting that they never (69.32% (n=61/88]) or are unsure if (12.50% (n=11/88]) they received training related to providing counseling services to SMs. We suggest the establishment of educational initiatives for genetic counselors focusing on how to discuss genetic testing with SMs in relation to their health and safety, well-being, and potential employment implications.

Multicancer hereditary syndrome testing: Genetic counselors’ perspectives.

106 Background: The accessibility of cancer hereditary syndrome testing has increased, and the cost has declined significantly in the past few years. We conducted a national, quantitative survey of genetic counselors (GCs) to assess their perspectives on what influences hereditary cancer genetic testing decisions and practices, with a focus on cost. This survey was funded by NIH, conducted by UCSF TRANSPERS, and supported by the National Society of Genetic Counselors(NSGC). Methods: The survey was developed through literature review, expert interviews, and a pilot. Sent to the NSGC Cancer Special Interest Group via email. Chi-square tests were used to examine variability. Results: The survey response rate was 56% (202/363). Multiple hereditary cancer syndrome tests are discussed often/always by 86% of genetic counselors (GCs).The existence of an institutional protocol on multiple hereditary cancer syndrome testing was reported by 35.4% of GCs. When asked about GC counseling encounters, GCs report insurance rarely/never pays for: 25.2% pre-test in-person,39.7% for pre-test tele-genetics, 35.4% post-test in-person, and 52.9% post-test tele-genetics. GCs rated clinical factors higher than cost as influencing decision for multiple hereditary syndrome cancer testing (table); the total cost of the test was least important. These patterns were similar across the GCs institution types and years in practice. Conclusions: We found consistent use of multiple hereditary cancer syndrome tests, with less focus on cost, out-of-pocket, and insurance coverage and more of a focus on clinical indicators. GCs reported challenges with reimbursement for GC counseling encounters. The shift toward more genetic counseling encounters via tele-genetics necessitates evaluation of insurance reimbursement.[Table: see text]

Multicancer hereditary syndrome testing: Genetic counselors’ perspectives.

10594 Background: The accessibility of cancer hereditary syndrome testing has increased, and the cost has declined significantly in the past few years. We conducted a national, quantitative survey of genetic counselors (GCs) to assess their perspectives on what influences hereditary cancer genetic testing decisions and practices, with a focus on cost. This survey was funded by NIH, conducted by UCSF TRANSPERS, and supported by the National Society of Genetic Counselors (NSGC). Methods: The survey was developed through literature review, expert interviews, and a pilot. Sent to the NSGC Cancer Special Interest Group via email. Chi-square tests were used to examine variability. Results: The survey response rate was 56% (202/363). Multiple hereditary cancer syndrome tests are discussed often/always by 86% of genetic counselors (GCs). The existence of an institutional protocol on multiple hereditary cancer syndrome testing was reported by 35.4% of GCs. When asked about GC counseling encounters, GCs report insurance rarely/never pays for: 25.2% pre-test in-person, 39.7% for pre-test tele-genetics, 35.4% post-test in-person, and 52.9% post-test tele-genetics. GCs rated clinical factors higher than cost as influencing decision for multiple hereditary syndrome cancer testing (table); the total cost of the test was least important. These patterns were similar across the GCs institution types and years in practice. Conclusions: We found consistent use of multiple hereditary cancer syndrome tests, with less focus on cost, out-of-pocket, and insurance coverage and more of a focus on clinical indicators. GCs reported challenges with reimbursement for GC counseling encounters. The shift toward more genetic counseling encounters via tele-genetics necessitates evaluation of insurance reimbursement.[Table: see text]

Genetic counseling for advanced paternal age: A survey of genetic counselors' current practice.

Advanced paternal age (APA) has no formal definition, though many publications utilize the cutoff of fathers >40years of age. The literature demonstrates an association between APA and certain conditions including de novo autosomal dominant disorders, birth defects, and neuropsychiatric conditions. This study surveyed 165 genetic counselors within the National Society of Genetic Counselors to assess their current approach to APA. t Tests, analysis of variance, logistic regression, and chi-squared tests were performed on quantitative data, and content analysis was applied to qualitative data. Although most respondents have discussed APA with a patient (88%), there was no consensus on what age cutoff constitutes APA: >40 (N=53, 37.9%), >45 (N=61, 43.6%), >50 (N=24, 17.1%), or >55 (N=2, 1.4%). Those who discussed APA were more likely to be prenatal counselors, see more patients per week, be board certified, or be familiar with current APA guidelines. Respondents agreed the literature supports the association of APA with deleterious outcomes (mean agreement=8.2, median=8 on a 1=strongly disagree to 10=strongly agree). Individuals who discussed APA and were board certified had higher agreement. Content analysis confirmed agreement that the literature supports an association between APA and deleterious outcomes (documented in responses from 31.5% of prenatal respondents, 17.8% others) but noted that available testing and screening options for associated conditions are limited (34.4% of prenatal respondents, 17.4% others). Prenatal and non-prenatal respondents reported similar agreement with the statement that APA is associated with deleterious outcomes. However, most non-prenatal respondents were unfamiliar with current guidelines (80%), and presumably as a result, were also less likely to discuss APA with their patients. Our study identified a need to disseminate information regarding APA and current guidelines to genetic counselors, particularly non-prenatal and those with less experience.

A survey of genetic counselors about the needs of 18-25 year olds from families with hereditary breast and ovarian cancer syndrome.

As a result of modern treatments, the life of women who test positive for BRCA mutations may be plotted along the arc of preventive medicine rather than the slope of diagnostics. Despite evidence supporting the benefits of risk reduction, protocols for early detection and prevention among women from families affected by hereditary breast and ovarian cancer (HBOC) are not yet proven, and clinical trials have not been undertaken for patients aged 18 to 25. The absence of psychosocial data may leave genetic counselors without uniform guidance on how to manage the care of these patients. This project sought to investigate perspectives on counseling 18-25year-old patients from families with hereditary cancer syndromes, with specific emphasis on HBOC, given their unique developmental, familial, and medical challenges. Certified genetic counselors were recruited through the NSGC's Cancer Genetics Special Interest Group listserv. Researchers constructed an online survey which included 41 items and elicited information about: counselor demographics, training, and practice settings; approaches to cancer risk assessment; and common challenges in work with 18- to 25-year-old patients. The survey was also informed by previous work by researchers with 18 to 25-year-olds with BRCA gene mutations. Eighty-six surveys were completed. Researchers used a combination of grounded theory and content analysis for open-ended responses, supported and triangulated with statistical analysis to maximize the interpretation of data. Genetic counselors who responded to this survey experience 18-25year old patients presenting for cancer risk assessment differently than older patients, and some reported adapting their counseling style to address these differences. Respondents differed in the extent to which they felt well-versed in the developmental needs of patients in this age group. Respondents aged 39 and under reported feeling familiar with this stage in life, having more recently completed it; respondents aged 40 and over reported they were less familiar with, and more interested in learning about, this age group. A primary challenge in cancer risk assessment of these patients, reported primarily by counselors aged 39 and under, is navigating family dynamics in counseling sessions and addressing the developmentally labile young adult. With respect to BRCA-related cancer risk, where penetrance is incomplete, onset in early adulthood is rare. Evidence-based treatment/prevention options exist, but providers may not have clarity regarding how or when to provide directive counsel. A rich understanding of the themes inherent in how people grow and change over time might enhance the counselor's capacity to assess patients and their family members. The integration of a developmental approach to genetic counseling has the potential to reduce the imperative for non-directive counseling.

Primary-care physicians’ access to genetic specialists: an impediment to the routine use of genomic medicine?

Primary-care physicians’ access to genetic specialists: an impediment to the routine use of genomic medicine?

Survey of genetic counselors and clinical geneticists' use and attitudes toward pharmacogenetic testing.

Pharmacogenetic (PGx) testing aims to improve therapeutic outcomes through tailoring treatment based on a patient's genetic risk for non-response and/or an adverse event. Given their expertise, geneticists could facilitate the use of PGx testing; however, the preparedness and perceived role of the clinical genetics community is unclear. To assess the attitudes, preparedness, and perceived roles of geneticists in the delivery of PGx testing, we conducted a survey of 1500 randomly selected board-certified genetic counselors and clinical geneticists in the United States [response rate: 37.8% (n = 516)]. Twelve percent of genetic counselors and 41% of clinical geneticists indicated that they had ordered or coordinated patient care for PGx testing, a seemingly high proportion at this early stage of adoption. Almost all respondents had some education on pharmacogenetics, although only 28% of counselors and 58% of clinical geneticists indicated they felt well-informed about PGx testing. About half of counselors (52%) and clinical geneticists (46%) felt they would play 'some' role in the delivery of PGx testing; 17 and 19%, respectively, felt that they would play 'no' or 'a little' role. At this early stage of PGx testing, the role of geneticists and genetic counselors is unclear. However, their experience may aid in readying PGx testing and informing delivery strategies into clinical practice.

Survey of genetic counselors and clinical geneticists' use and attitudes toward pharmacogenetic testing

Survey of genetic counselors and clinical geneticists' use and attitudes toward pharmacogenetic testing

Telephone disclosure of BRCA1/2 test results: a survey of genetic counselors.

Abstract Abstract #1098 Disclosure of BRCA1/2 test results has historically been conducted in person by a certified genetic counselor (GC) and/or other health care professional. Due to increasing demand for and access to BRCA1/2 testing, there has been interest in providing genetic counseling services, including disclosure of test results, by telephone and internet. The practice of telephone disclosure among certified genetic counselors has not been described. We conducted semi-structured interviews with GCs to determine current prevalence of, and future interest in, telephone disclosure (TD) of BRCA1/2 test results. Surveys were self-administered and completed via a secure web site. Participants were recruited through the NSGC Cancer Special Interest Group. 195 GCs completed the survey (25% response rate). 23% of respondents have provided pre-test counseling by telephone. 98% reported having provided genetic test results by telephone, although many (48%) conduct TD rarely (<25% of the time). 33% reported TD experiences that had made them question TD as a practice. Comfort with TD varied by test result (37% comfortable with TD for positive test results, 77% for true negative results, 49% for indeterminate results and 33% for VUS results). The majority of GCs do not include a physician (85%) in the TD. Many report encouraging in-person follow-up with a GC (44%) and/or physician (30%). Overall, 42% reported being very interested in TD and 73% felt TD could be an acceptable standard practice. These results suggest many genetic counselors have provided genetic test results by phone and are interested in including telephone disclosure of BRCA1/2 test results in their practice. Given provider interest and the expansion of testing for BRCA1/2 and other hereditary cancer syndromes, further research evaluating the cognitive, affective and behavioral responses to telephone disclosure is warranted. Understanding the impact of telephone disclosure on factors such as, comprehension, risk perception, communication and performance of risk reducing behaviors and their mediators will be critical for the development of telephone disclosure policy and procedures that will optimize adaptive responses to receiving genetic test results via telephone or internet. Citation Information: Cancer Res 2009;69(2 Suppl):Abstract nr 1098.

A survey of genetic counselors' strategies for addressing ethical and professional challenges in practice.

There is limited research about ethical and professional dilemmas that genetic counselors encounter in their practice and their strategies for addressing them. In this study, 454 genetic counselors rated the frequency with which they encounter each of 16 ethical/professional challenges identified and categorized previously (McCarthy Veach P., Bartels DM, LeRoy BS (2001) J Genet Couns 10(2):97-119). Over 40% indicated these issues occurred frequently: patient emotions, diversity, financial constraints, uncertainty, and colleague error. Two hundred and fifty-five respondents provided personal anecdotes describing exceptionally challenging situations and recommended strategies for addressing them. Most of their anecdotes involved informed consent, value conflicts, confidentiality, colleague error, withholding information, and resource allocation. The most frequently recommended strategies were further discussion with patients, consultation with other professionals, and referral to other health sources. Thirty-five respondents were unable to/did not offer strategies. Respondent demographics were not related to frequency of issues, type of anecdote, or recommended strategies. Practice, policy, and research implications are discussed.

A survey of genetic counselors' use of informed consent documents for prenatal genetic counseling sessions.

Thirty six members of the Prenatal Diagnosis Special Interest Group of the National Society of Genetic Counselors were interviewed about their use of informed consent documents for the genetic counseling component of their prenatal genetic counseling sessions and their perceptions of the utility and feasibility of such documents. Major findings include (1) None of the genetic counselors currently used a consent document describing the genetic counseling component of the session itself; (2) Only three participants stated that they had ever used an informed consent document for this component of the session; (3) They disagreed about the importance and usefulness of such a document; (4) There was variability in their reported likelihood of using a document if one were available; (5) There was a fair amount of agreement about the types of information to include on an informed consent document for genetic counseling; over half of the sample endorsed 8 of 10 topics; and (6) Participants identified 10 obstacles to using such a document. Recommendations for genetic counseling practice, policy, and research are given.

Survey of genetic counselors and clinical geneticists regarding recurrence risks for families with nonsyndromic cleft lip with or without cleft palate.

Nonsyndromic cleft lip with or without cleft palate (CL/P) is a common congenital malformation affecting about 1/1,000 caucasian infants. Although the familial clustering of CL/P has been studied thoroughly, estimation of recurrence risk for genetic counseling purposes can be difficult. A survey was mailed to 912 board-certified genetic counselors, 542 non-board-certified genetic counselors, and 776 board-certified clinical geneticists to investigate the recurrence risks they would assign to three example families with CL/P. Responses were received from 155 (17%) board-certified genetic counselors, 36 (6.6%) non-board-certified genetic counselors, and 100 (18.5%) board-certified clinical geneticists. No major differences were found in their responses, suggesting that for these three families, geneticists would provide similar estimates of risk, regardless of their amount of experience with oral clefts patients, where they are currently employed, or their board certification status.

Provider biases and choices: the role of gender.

Genetic counseling provides a unique opportunity to test the influence of gender on moral reasoning. The theories of Carol Gilligan on women's "relationship based" framework for ethical decision making were contrasted with Kohlberg's research on men's resolution of conflicts based on abstract, universal principles in an impersonal and fair manner. Discussion also focussed on the theories of sociologists, such as Kanter's that a profession prestige and income as well as the proportion of women in profession determine the approach to ethical problems. This study reports on survey data in 1985 and 1986 collected from medical geneticists in 19 countries that had at least 10 medical geneticists, with at least one available to distribute questionnaires, and the appropriate geographic distribution. The survey did not include genetic counselors and allied professionals. The questionnaire asked for responses to 14 case studies, 4 questions on genetic screening and access to test results, and 12 questions on the goals and conduct of genetic counseling. 62% responded. Sociodemographic data were also collected and analyzed in stepwise logistic regressions. THe results showed that gender was the single most important determinant of ethical decision making and ethical reasoning. There were gender differences in responses to 6 of the 14 cases and, in the US, for a 7th case: sex selection. In the US, women were 4.4 times more likely to counsel indirectly about XYY fetuses and 3.6 more likely to bring up issues like false paternity or genetic carriers in other family members. Patient autonomy was an issued in a case involving a 25-year-old woman who demanded prenatal diagnosis with no genetic or medical indications and another case involving a couple desiring a son after having 4 daughters. Rights based responses were provided by 49% and relationship based responses by 44%. Gilligan's hypothesis was not supported. Similar results were found in a survey of genetic counselors, who were 94% women. A summary of other studies involving actual practices was given. Further research is needed to determine the processes of professionals' self definition, ethical views, and extent to which views and practices are gender or profession related; training programs may affect provider attitudes.