Lived experiences of undergoing regular tumor screening in patients with multiple endocrine neoplasia types 1 and 2 (MEN1/MEN2)

9.22.2023

Targeted screening programs for individuals with an increased risk for cancer have become increasingly available. Patients with multiple endocrine neoplasia (MEN), rare genetic conditions associated with the development of tumors in the endocrine glands, undergo intensive surveillance from an early age. Quantitative research has shown that patients with MEN experience fear of disease occurrence in themselves and their family members. However, little is known about the role that intensive, lifelong screening plays in the lives of individuals. This study investigates the lived experiences of patients with MEN undergoing regular tumor screening through an interpretative phenomenological analysis of interviews with 12 patients with MEN1, MEN2A, or MEN2B syndrome. Four experiential group themes are identified: coming to the foreground/fading into the background, relating to uncertainty, experiencing control, and familial context. Screening is characterized as an ambiguous experience that brings MEN to the foreground and may both exacerbate MEN-related uncertainty as well as provide a sense of control over the disease. The experience of undergoing screening is strongly influenced by the familial context, as participants care for and are cared for by family members and understand their disease through familial experiences. Good care according to patients with MEN includes providing family-centered care, addressing the impact on daily functioning and the meaning of illness, support in the interpretation of physical complaints, facilitation of patient experiences of control, and careful attunement to patient needs within a good doctor–patient relationship.

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Genetic counselors' research dissemination practices and attitudes

9.22.2023

Benefits have been demonstrated to disseminating aggregate research results to all relevant audiences, including study participants. Despite this, many health researchers face barriers in dissemination to broad audiences and returning aggregate results to participants is not commonly practiced. Due to their research presence and training in communication, genetic counselors can lead in implementing best practices in this area. We explored genetic counselors' current practices and opinions regarding educating study participants and wider audiences of research findings. We distributed a survey of 32 multiple-choice and open-ended questions to National Society of Genetics Counselors (NSGC) and Canadian Association of Genetic Counsellors (CAGC) members. Most respondents (90.1%, n = 128/142) identified with a responsibility to disseminate their research findings to a broad audience and identified several associated benefits. All respondents saw value in communicating aggregate results to study participants, although over half (53.2%, n = 66/124) had never done so. Genetic counselors reported resource and knowledge barriers to research dissemination. Despite expertise in education and communication, genetic counselors face similar barriers as other researchers toward broad dissemination of research. Formal training and professional guidelines specific to research dissemination practices will equip genetic counselors to reach broader audiences and maximize the impact of research findings.

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Establishing a mentorship program for prospective genetic counseling graduate students: Two cycles of program experience

9.22.2023

Mentorship has been a long-standing and important piece of healthcare training, but few formal, structured mentorship programs exist in the genetic counseling field. Our report describes the creation and evaluation of the Genetic Counseling Assistant Mentorship Program (GCAMP) after two cycles of the program. Genetic counseling assistant (GCA) mentees were paired with genetic counselor mentors for support and advice primarily surrounding graduate school applications and professional development. Pairs were encouraged to meet at regular intervals, but the specific meeting patterns were determined by the pair based on the needs of the mentee. The GCAMP also involved electronic and interactive resources for mentees, which were continually developed.

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A balancing act: Non-directive communication, risk perceptions, and meeting patient needs in genetic counseling: A South African case study

9.22.2023

Genetic counseling (GC) traditionally follows a non-directive counseling approach. Although a cornerstone of GC teaching and theory, there has been debate on whether GC is, can be, or should be a patient-led service due to challenges in practice, as well as the advancement and complexity of genetic testing. Personal risk perceptions and patient expectations within particular contexts may further affect how genetic counselors discuss risk information, even while attempting to remain neutral. Less is known about the process of GC communication in non-Western settings. This paper presents empirical evidence from a South African prenatal GC consultation where tensions become apparent due to differing risk perceptions and expectations between a genetic counselor and a patient, which ultimately impacts non-directive communication practice.

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International genetic counseling: What do genetic counselors actually do?

9.22.2023

We conducted an exploratory survey of genetic counselors internationally to assess similarities and differences in reported practice activities. Between November 2018 and January 2020 we conducted a mass emailing to an estimated 5600 genetic counselors in different countries and regions. We obtained 189 useable responses representing 22 countries, which are included in an aggregate manner. 

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Polygenic Risk Scores in Clinical Practice

9.12.2023

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Professional Development and Leadership

9.12.2023

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Credentialing: How and Why?

9.12.2023

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Links between gender norms and the intergenerational transmission of health information in parents carrying BRCA1/2 pathogenic variants

9.8.2023

Understanding how gender norms affect parents' communication of genetic and cancer risk information to their children can enable healthcare professionals to better facilitate cascade genetic testing. We conducted a qualitative study with semi-structured interviews to determine social factors associated with parents carrying the BRCA1/2 pathogenic variants who communicated cancer prevention practices to their children.

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Medicare beneficiary barriers to genetic counselor services: Implications for patient policy, decision-making, and care

9.8.2023

If passed, the “Access to Genetic Counselor Services Act” will authorize genetic counselors to provide services under Medicare part B. We assert that Medicare policy should be updated through the enactment of this legislation to provide Medicare beneficiaries with direct access to genetic counselor services. In this article, we discuss the background, history, and some recent research relevant to patient access to genetic counselors to provide context and perspective regarding the rationale, justification, and potential results of the proposed legislation. We outline the potential impact of Medicare policy reform, including the effect on access to genetic counselors in high-demand areas or underserved communities. Although the proposed legislation pertains only to Medicare, we argue that private systems will also be impacted by passage as this may lead to an increase in hiring and retention of genetic counselors by health systems, thereby improving access to genetic counselors across the US.

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