Journal of Genetic Counseling最新文献

Sponsored genetic testing is where a non-traditional payer (e.g., pharmaceutical company, patient advocacy group) covers the cost of diagnostic genetic testing for a qualified individual in exchange for patient data. Although previous research has shown the public is hesitant when sharing medical information with for-profit researchers, there has been little research on genetic counselor (GC) attitudes toward sponsored testing. This study used mixed methods to assess GCs' awareness of and attitudes toward sponsored testing and perceived implications on informed consent processes. Board-certified GCs were eligible to complete an online survey. Respondents with experience ordering sponsored testing were invited to participate in a focus group. Descriptive statistics were performed for survey data. Qualitative data were iteratively analyzed using codebook thematic analysis. The survey was completed by 68 GCs, of which 97% were female, 41% had 1–4 years of GC experience, and 75% had experience ordering sponsored testing. 61% (n = 41/67) of survey respondents felt the advantages of sponsored testing outweigh the disadvantages, and that there are additional components of informed consent for sponsored testing compared with standard practice. Of those who completed the survey, 12 participated in one of four focus groups. Most focus group participants felt that the lack of monetary cost and insurance billing were advantages of sponsored testing, as they increased access to testing for their patients. Perceived disadvantages included lack of transparency surrounding data sharing practices and the inability to customize sponsored panels. Many focus group participants felt that additional components of informed consent should be discussed with the patient when ordering sponsored testing, such as secondary use of data and future contact for research contribution. The majority of focus group participants described that when discussing sponsored testing with patients, they offer multiple test options and use shared decision-making to explore patients' perceptions of sponsored testing. Our study suggested that it is important for providers to thoughtfully approach conversations on sponsored testing.

The Genetic Information Nondiscrimination Act (GINA) is a well-known law within the genetic counseling community. Most genetic counselors are familiar with its major provisions, including prohibiting genetic discrimination in health insurance and employment. Nevertheless, clinical scenarios often arise for which genetic counselors were not specifically trained. Anchoring ourselves in clinical case examples, this article provides a brief guide to GINA contextualized in specific scenarios where misunderstandings of the law on the part of the genetics professional and patients are likely. This paper focuses on the legal context of the United States. The scenarios discuss state laws that have been passed to strengthen GINA's protections since GINA was passed, as well as GINA's relationship with military service members, GINA's interactions with the Affordable Care Act (ACA), and stipulations on lowering insurance premiums. This paper also summarizes advice for discussing the possibility of discrimination for life, disability, or long-term care insurance with patients, as well as questions to consider when assessing state laws. The intention of this paper is not to provide legal advice or address specific situations, but to provide commentary that can be used by genetics professionals, in collaboration with privacy/compliance colleagues, to establish practices and policies, reflective of their hospital policies, state, and federal law.

The objective of this study was to examine the opinions of parents diagnosed with multiple sclerosis (MS) and parents with children diagnosed with MS regarding genetic testing. A total of 326 parents residing in 52 separate provinces of Türkiye participated in the study. A questionnaire form, prepared by the researchers, was employed as the data collection instrument. The results showed that parental opinions about genetic testing differed according to age group, gender, education level, income level, and whether having MS made it difficult to be a parent (p < 0.05). The subsequent analyses revealed that fathers and participants with lower levels of education and income and participants over 51 years of age were concerned about the security and confidentiality of genetic testing and that genetic testing could lead to family conflict, while mothers and parents with higher levels of education agreed that genetic testing was important for family planning. The findings of the study may help to provide a practical basis for both health policy and medical practice and to determine the prominent psychosocial aspects in developing societies with similar dynamics as the Turkish society, while providing genetic counseling and guidance to families with MS.

Genetic counseling is not a legally recognized profession in the majority of Canadian provinces and territories. Research indicates that genetic counselors (GCs) are becoming increasingly autonomous, expanding their presence beyond genetics clinics within academic institutions. In certain clinical settings, they serve as the sole healthcare practitioners with expertise in genetics. Alongside this increasing professional autonomy, research also highlights that the unregulated practice of genetic counseling poses risks of harm to the health and well-being of the public. This underscores the need for legal recognition to protect and mitigate these risks. Achieving legal recognition can be a lengthy and complex process, often requiring the fulfillment of stringent legal criteria and significant resources. While previous initiatives in Canada have faced challenges, interest in legal recognition for GCs remains strong. To support GCs in their ongoing and future efforts to achieve legal recognition, this article synthesizes the findings of a series of Working Group discussions on legal recognition. Based on these discussions, we propose a set of Points to Consider and a roadmap that GCs can use in their pursuits of legal recognition. Although the pathway to legal recognition will vary by jurisdiction, this article highlights key factors that GCs should consider when applying for legal recognition to help facilitate both current and future initiatives. While this article focuses on the legal recognition process in Canada, our roadmap may also be useful for GCs in other jurisdictions where legal recognition may be sought.

This paper undertakes an analysis of the graphical elements and information content of different versions of the pedigree of one historically famous family, the Wedgwood–Darwin–Galton (WDG) family. Over the course of approximately 100 years, different versions of the pedigree were used to tell different stories about the family in the context of eugenics and genetics. A close and detailed reading is undertaken to examine the very subtle ways that information, graphics, and formatting are used to shape the story that a pedigree tells, and how that story is influenced by the training, goals, biases, and ideology of the person constructing the pedigree, as well as the social, historical, and cultural context. Discussion is given to how the format and content of pedigrees continue to be shaped and manipulated in ways that reflect cultural context, ethical principles, and conscious and unconscious biases in the current practice of genetic counseling.

Logotherapy is a psychological approach originated by Viktor Frankl, shaped by the thesis that meaning can be discovered even in the most tragic of human circumstances, and through a human's will-to-meaning, that individuals have both freedom and responsibility to discover meanings in the moment and ultimate meanings from their unique standpoints and life stories. The authors submit that as the genetic counseling profession straddles the givens of science and disease alongside the openness of human choices, logotherapy is a particularly effective and potent framework for its practitioners. Logotherapy holds space for the painful experiences of guilt, death, and suffering alongside genetic conditions and the responsibility to make decisions about what to do and how to live. Attention to the emerging psychological concerns and possibilities for meaningfulness in these spaces of tension can enhance the core goals of genetic counseling, including informed decision-making and healthy adaptation. This paper aims to demonstrate the efficacy of meaning-centered counseling skills to actively empower a patient's narrative and capacities as essential and alongside other health care needs and concerns. This paper focuses on the general approach of logotherapy and highlights two specific techniques: Socratic Dialogue and Dereflection. From the authors' own multiplicity of practice and teaching perspectives in the genetic counseling field, the paper argues that logotherapy is highly applicable to the profession, highly compatible with short-term counseling interventions and across varied specialties, offering counselors and their diverse patient populations a more meaning-rich experience of care, respect, and decisional empowerment.

Although psychosocial support and assessment is a required competency of genetic counselors (GCs), how the psychosocial assessment is actualized in sessions is not well studied. We aimed to describe the landscape of psychosocial assessments in clinical genetic counseling sessions at a single institution through direct analysis of audio recordings. Clinical GCs at Stanford Medicine and their new English-speaking adult patients were eligible. After GCs and patients completed demographic surveys, we audio-recorded sessions for which the GCs and patients enrolled. Purposive sampling, prioritizing a breadth of GCs, specialties, indications, and patient demographics, was used to select audio recordings for transcription and analysis. We used a blended inductive and deductive approach to develop the codebook. Code frequency and memos were assessed for descriptive content analysis of psychosocial components of the sessions. We analyzed 23 audio recordings, representing nine GCs across cancer, cardiology, and prenatal. We identified three distinct psychosocial styles that GCs used: “Direct,” “Informational,” “Casual.” While all styles incorporated emotion-focused conversation to some degree, only the “Direct Psychosocial Style” included an explicit psychosocial assessment of patients. Psychosocial assessments consisted of direct feelings questions, emotion-focused responses, and advanced empathy. The “Informational Psychosocial Style” was characterized by GC responses to patient feelings and sympathy statements, without consistent exploration of patient feelings throughout the session. The “Casual Psychosocial Style” was characterized by an observable rapport between the GC and patient that carried throughout the session, allowing for psychosocial issues to be explored organically. GCs varied in their use of each style across patients, specialty, and indication. In conclusion, we observed three distinct psychosocial styles, of which only the Direct Psychosocial Style had an overt psychosocial assessment. Further research is needed to examine patient outcomes within each style.

Intersex individuals and/or individuals with variations in sex characteristics (VSC)/differences in sex development (DSD), who will be referred to from this point forward as individuals with I/VSC, have sex characteristics that do not fit within the binary framework of sex. This community has historically been marginalized in healthcare due to the pathologization of intersex variations, including nonconsensual sex “normalizing” medical interventions. While previous research has explored the perspectives of individuals who are transgender and/or gender-diverse on counseling about fetal sex chromosomes by healthcare providers (HCPs), there is limited information on the recommendations of individuals with I/VSC for genetic counseling on prenatal sex chromosome screening. Sixteen semi-structured individual interviews were conducted virtually with members of the I/VSC community, a majority of whom identified as gender diverse, about their experiences in the United States and/or Canadian healthcare systems and their perspectives on how prenatal HCPs should counsel their patients on sex chromosomes, sex chromosome screening, and sex and gender. Participants were recruited through social media, and the majority resided in the United States. Using reflexive thematic analysis, four overarching themes were identified: (1) People with I/VSC face medical and societal discrimination; (2) Prenatal sex chromosome screening reinforces the sex binary; (3) HCPs have the potential to influence parental decision-making; and (4) HCPs should affirm sex and gender diversity. Participants expressed that there is a lack of HCP education on both intersex variations and gender diversity that has led to members of these communities experiencing a variety of harms. Our findings suggest that prenatal HCPs have a responsibility to educate themselves in order to provide patients with I/VSC and/or who are gender diverse, as well as their families, with appropriate care. Additionally, participants emphasized that systemic and societal change is necessary for ending the stigma and discrimination that individuals with I/VSC and/or who are gender-diverse face.

Variants in the cystic fibrosis transmembrane conductance regulator (CFTR) gene, which causes cystic fibrosis, have become increasingly well-characterized in recent decades. However, clinicians remain challenged by CFTR variants that result in variable expressivity and reduced penetrance, including the variant R117H (c.350G>A) and the intron 9 poly-thymidine (poly-T) and poly-thymidine-guanosine (TG) tracts, highlighting a knowledge gap that impacts the delivery of accurate information to patients and families. To address this gap, we developed an educational resource that provides descriptive likelihoods of specific phenotypes that may result from genotypes including R117H and the poly-T and TG tracts. Development of the resource was grounded in an extensive literature review, clinical expertise, and publicly available CFTR variant databases, with feedback incorporated from CF clinicians, genetic counselors, and CF content experts. Genotypes were determined to have very low, low, moderate, high, or very high likelihood of resulting in CF, CFTR-related disorder (CFTR-RD), no symptoms, or the designation of CFTR-related metabolic syndrome/CF-screen positive, inconclusive diagnosis (CRMS/CFSPID) following CF newborn screening. The resource described in this report is intended to help clinicians navigate the uncertainty surrounding potential diagnostic scenarios to present accurate assessments to patients and families, a critical component of CF genetic testing and counseling.