Genetic Counseling in Nephrology: Challenges and Opportunities

Ethical Issues in Genetics Related to Hearing Loss

This book is a timely overview of topics relevant to emerging genetic technologies and the ways individuals and society may be confronted with the issues that arise. The author states in the introduction that “The central aim of this book is to explore what values, ethical principles, and assumptions underlie the many and varied policy questions that arise from determining how best to integrate genetic innovations into practice.” Further, she states that she hopes the book will “sharpen the reader's critical and analytic faculties to better evaluate ongoing issues.” Her stated desire is to create a better informed citizenry who can make more informed personal and policy choices. Her goals are education about genetic technologies, but also to provide a way of thinking about the related ethical issues. Toward those goals, in the first chapter, Barash provides an introduction to basic genetic principles and terminology as well as a history of genetic screening and testing in the United States. She introduces some of the ethical issues associated with genetic technologies such as an individual's and society's duties and obligations towards one another, threats to autonomous decision making about genetic testing, the possibility of genetic discrimination, the ideal of informed consent and the problem of equal access to technologies. The second chapter provides a description of some of the main theories of ethical analysis, such as theories of consequentialism, deontology, rights, intuitionism, justice and altruism. The ideas of autonomy, beneficence, justice and informed consent are introduced. The third chapter on genetic privacy and discrimination is the longest in the book and includes history, examples and scenarios for thought. The following chapters include topics such as behavioral genetics, pharmacogenetics, genetic research, genetically modified foods, stem cells and cloning. Each chapter includes discussion of the relevant ethical issues, history, future concerns and often scenarios to help the reader further consider the issues. The author is successful in meeting the stated goals of the book. She provides an overview of many topics in a straightforward and understandable manner. While most genetic counselors would find the information contained in this book a review, the content is very appropriate for genetic counseling students, a general audience of undergraduate students, graduate students in other health care fields, business professionals in non-health care related industry as well as other lay audiences. Given the stated goals of the book, the second chapter on ethical theories seemed particularly brief, but the theories that were presented were incorporated throughout remaining chapters to reinforce the learning. Due to the fact that GINA became law shortly after the publishing of this book, the third chapter on genetic discrimination is already out-dated. However, the author does include mention of GINA and its possible implications. Genetic counseling is given passing reference several times in the book, but there is no explanation of the education, training, roles or ways genetic counselors help people manage ethical issues. At the end of the book there are exercises that correlate to the concepts discussed in some of the chapters. Most of the exercises are useful learning tools, with the exception of the exercise for chapter 6 which seems overly complicated and difficult to carry out. Although the book would have benefited from better editing (there were a number of misspellings and omitted words throughout), the glossary of terms and descriptions of various genetic technologies at the end are helpful. The author, Dr. Carol Isaacson Barash is an independent consultant with her own company called Genetics, Ethics & Policy Consulting, Inc. (GEPC), which specializes in the integration of genomics into health care delivery. Prior to establishing GEPC, Dr. Barash was director of a study on genetic discrimination funded by the Department of Energy. This experience perhaps explains why her chapter on genetic discrimination is the most detailed in the book. She is a trained philosopher with over twenty years experience in health care. This book is a useful tool for those interested in better understanding the complex ethical issues associated with the current and emerging technologies associated with our greater knowledge of the human genome.

Disparities in completion of genetic testing and counseling for Lynch syndrome in high-risk patients diagnosed with endometrial cancer (601)

PH Professional Network: Genetic Counseling and Pulmonary Arterial Hypertension

M6 - Presymptomatic Genetic Counseling In Frontotemporal Dementia/Amyotrophic Lateral Sclerosis: A Potential Model For Genetic Testing In Neurodegenerative Disorders

Access to cancer genetics services in Jordan is limited due to limited genetic counseling workforce, genetic testing options, and absence of formal genetic counseling training programs. As such, non-genetic counseling healthcare providers (NGCHP) are required to fill this gap and are the primary providers of genetic counseling services. Understanding their perspectives and experiences is crucial to bridge the accessibility gap of genetic counseling services in Jordan. This study assessed NGCHP’s perceived utility, comfort, and familiarity with genetic testing and counseling as well as their past genetics training and preferences for continuing education regarding genetic counseling/testing. An online questionnaire was created based on similar studies and input from the study team. Questions included: provider demographics, experience, knowledge, perceptions/attitudes, comfort, education regarding genetic counseling and testing, and hypothetical cancer genetic testing scenarios per National Comprehensive Cancer Network Guidelines. Oncology healthcare providers in Jordan were recruited through the King Hussein Cancer Center, the Jordan Oncology Society, the Jordanian Hematology Association, and LinkedIn. Knowledge was assessed by scoring the responses to questions about hypothetical patient scenarios based on National Comprehensive Cancer Network guidelines. Comparative (linear regression, Pearson, and Spearman correlation) and descriptive analysis were performed using Excel and Stata. There were 33 participants: 88% were male (n = 29,) and 61 % were physicians (n = 20) with 5 years or more of experience. Majority (n=29, 88%) of participants strongly or somewhat agreed that genetic testing is relevant to their current practice and 32 (97%) strongly or somewhat agreed that it would be increasingly useful in the future. Most participants were either very or somewhat comfortable with aspects of genetic counseling. However, there was no statistically significant correlation between level of comfortability and either years of experience (Spearman’s rho= 0.096) or age (P=0.886). The fewest participants were very comfortable with interpreting test results (n=18, 54%) or choosing the correct test (n=18, 54%). When asked specific questions related to patients’ eligibility for germline genetic testing, participants scored 76% or below in the knowledge section. Breast cancer knowledge scores were lowest for questions related to male breast cancer (40%) and triple-negative disease (60%), emphasizing the need for education and training to improve the identification and counseling of eligible patients for genetic testing. Despite minimal formal training NGCHPs are familiar with aspects of the genetic test process. However, there remains a gap in knowledge and how often they are offering or ordering genetic tests suggesting the need for dedicated genetic counseling services in resource-restricted countries. Citation Format: Lulwa El Saket, Allison L. Cirino, Eugene Wong, Sarah Spinette, Perman Gochyev, Bayan Altalla, Sarah Abdel Razeq, Hikmat Abdel Razeq. Perceptions, Attitudes, and Education of Oncology Health Care Providers Regarding Genetic Testing and Counseling in a Resource-Restricted Country [abstract]. In: Proceedings of the San Antonio Breast Cancer Symposium 2024; 2024 Dec 10-13; San Antonio, TX. Philadelphia (PA): AACR; Clin Cancer Res 2025;31(12 Suppl):Abstract nr P3-04-11.

Genetic counseling and testing for dementia - A scoping review of patient and relatives experiences and outcomes.

Talking to Parents About Genetics

Genetic Counseling and Testing for Pulmonary Arterial Hypertension in the United States

Introduction: The field of genetics is rapidly expanding and people are increasingly utilizing genetic testing and counseling services. However, the current literature on genetic health topics and Filipinos remains limited, as many minority populations are not adequately studied. This study describes Filipino Americans’ attitudes and knowledge of genetic disease, genetic testing, and genetic counseling. To address these knowledge gaps and reduce the burden of health disparities, the informational needs of Filipino Americans regarding genetic disease and genetic services must be understood in order to better tailor these services and outreach methods. Methods: Fifteen semi-structured, qualitative interviews were held with individuals who self-identified as Filipino American between November 2022 and January 2023. Interviews were transcribed and coded using an iterative process. Results: Most participants were familiar with genetic disease and believed that factors such as biology, as well as cultural factors such as upbringing and food, contributed to its development. The majority of participants had previously heard of genetic testing; however, most participants either did not know much or were only familiar with ancestry direct-to-consumer genetic testing (DTC-GT). Most participants had not heard of genetic counseling and those that had heard of genetic counseling before did not understand its purpose. Overall, most participants had a positive attitude toward genetic testing and counseling. Participants identified the benefits of these services including genetic disease prevention, management, and treatment. Participants stressed the importance of educating the Filipino community and shared their ideas for how to implement outreach efforts. Discussion/Conclusion: This study found that Filipino Americans generally had a positive outlook on genetic testing and genetic counseling. We propose participant-generated ideas for outreach and education that may help inform future public health efforts that aim to educate this population about genetic disease, testing and counseling.

A heritable condition is the identified cause of cancer in 5% to 10% of women with breast cancer and in 25% of women with ovarian cancer. It is critical to identify patients at risk for inherited genetic mutations to implement risk-reducing screening and interventions; however, reports in the medical literature indicate that an alarming number of patients with inherited genetic mutations do not receive recommended genetic counseling, testing, or interventions. In order to improve outcomes for these high-risk patients, barriers to genetic testing and counseling must be identified. We analyzed approximately 200 patients seen at our institution with breast or ovarian cancer who met criteria of the National Comprehensive Cancer Network for genetic counseling and testing. Of these patients, almost 70% had appropriate genetic testing and counseling. Review of the remaining 30% revealed that the largest obstacle to receiving genetic testing and/or counseling was lack of referral from the treating oncologist. Of the patients diagnosed with a pathogenic heritable mutation, most underwent appropriate risk-reducing procedures and surveillance. Thus, the initial referral to genetic counseling is the most significant barrier for at-risk patients at our institution and likely in this population at large. Additional study is needed to identify ways to improve appropriate use of genetic testing and counseling.

Genetic counseling is “the process of helping people understand and adapt to the medical, psychological, and familial implications of genetic contributions to disease.” Traditionally, this process includes collecting and interpreting the family and medical history, risk assessment, a comprehensive educational process for potential genetic testing, informed consent, and psychosocial assessment and support (National Society of Genetic Counselors' Definition Task Force et al. 2006). While genetic counseling falls within the scope of many health care professionals, clinical geneticists (physicians) and masters level genetic counselors have been working in the United States for more than 40 years, providing genetic counseling primarily for single-gene conditions. Debate about what “genomic counseling” will include and who will practice it has been fueled by the transition from single-gene focused genetic counseling and testing to a full genomic medicine approach. The routine incorporation of genomic medicine will likely induce differences in the scope, approach and process of genetic counseling (Table ​(Table1).1). In this commentary, I will discuss the several areas where practice will likely change as we move toward “genomic” counseling, with a focus on the unique skills and roles that genetic counselors and clinical geneticists provide. Table 1 Changes that will impact the transition to “genomic counseling.”

Genetic testing is important in the diagnosis of genetic disorders. Genetic counseling integrates the interpretation of the results of genetic testing to reach informed decisions concerning genetic disorders. Palestine has an increased incidence of genetic disorders primarily due to the continued practice of consanguineous marriage. Nevertheless, limited research has been conducted to explore public awareness regarding genetic testing and genetic counseling. The current study aimed to assess the public knowledge, attitudes, and practices of Palestinians toward genetic testing and genetic counseling. A cross-sectional study was performed using an online questionnaire that gathered information from Palestinians whose ages were 18 years or older between April and July 2024. The questionnaire gathered demographic information about the participants and assessed their genetic test usage patterns and their knowledge, practices, and attitudes toward genetic testing and counseling. A total of 1056 participants (408 males and 648 females) completed the questionnaire. The mean age of participants was 31.18 years. Sixty-seven point 6% of the participants reported their knowledge about the term genetic testing; however, only 35.5% of them knew the term genetic counseling. Knowledge of genetic testing was significantly associated with younger ages, higher levels of education, and higher income (p < 0.05). Knowledge of genetic counseling was significantly associated with higher income and was more familiar among married participants and those who underwent routine check-ups. Only 9% indicated that they underwent genetic testing which was higher among older ages, married participants, among those undergoing routine check-ups, and among participants who had hereditary disorders in their families. Among the 95 participants who had genetic tests, 52.6% of them performed it for marriage. Other reasons for undergoing genetic testing were diagnosis (22.1%), followed by carrier testing (17.9%), and predictive and pre-symptomatic testing (10.5%). Sixty-point-6% of respondents reported they would like to perform genetic testing as a predictive test for cancer risk. Participants with higher levels of education were more likely to perform cancer-predictive genetic testing (p < 0.05). Participants who were undergoing routine check-ups, those who had reported their health status as poor, and those who had hereditary disorders in their families were more likely to perform predictive cancer genetic testing. In conclusion, there is insufficient knowledge about genetic counseling among Palestinians. Despite the relatively good knowledge of genetic testing, this has not translated into appropriate practice. Genetic testing is still not widely practiced and the most common for performing it is pre-marriage testing rather than medical reasons. It is strongly recommended to increase awareness about genetic testing and genetic counseling among Palestinians. In particular, these programs should be directed toward people with lower levels of education, and toward families with a high degree of consanguinity and consequently a high incidence of genetic disorders.

With the market for direct-to-consumer genetic testing expanding rapidly, clinicians are playing catch-up.

Genetic test results can substantially impact the care of cancer survivors even long after their initial oncologic treatments, and can also lead to testing and initiation of clinical care for their relatives. There are two scenarios in which it is particularly important to assess genetic risk and consider genetic testing during survivorship: (1) in cancer survivors whomeet criteria for genetic testing but have not yet had this performed, and (2) in cancer survivors who had genetic counseling and testing previously yet should now consider additional testing because of a newcancer diagnosis (personal or family) or updated testing options (e.g., availability of expanded molecular analyses). To illustrate the importance of addressing genetic risk in survivors, consider the following patient case. J.S. is a 53-year-old woman who had tested negative for BRCA1/2mutations in the late 1990s after having been diagnosed with breast cancer at age 29. Last year, her nieces inquired about her testing history and results because they were concerned about their own risks. When J.S. learned that more extensive testing had become available (including testing for BRCA1/2 gene rearrangements), she opted for additional testing and was found to carry a deleterious BRCA1 mutation. Based on this new information, she underwent bilateral salpingo-oophorectomy, at which time she was diagnosed with stage 2 ovarian cancer. In addition to facilitating J.S.’s care, the knowledge of her BRCA1mutation allowed her family members to make informed decisions about their own testing and treatment. Thus, genetic testing can play a critical role in optimizing a patient’s survivorship care and in mitigating future risks for her and her family. The evolution of testing, as illustrated in this case, is one of several reasons we discuss for revisiting genetics in the care of cancer survivors. In this article, we describe barriers to genetic testing, which must be considered to address the needs of cancer survivors who meet testing criteria but have not yet been evaluated. Testing for pathogenic mutations in susceptibility genes known to be associated with familial cancer syndromes has been recommended for many cancer patients and their family members for two decades, but not everyone who receives this recommendation is tested. Genetic testing may be appropriate for some people based on concerning family histories or their own characteristics (e.g., young age at diagnosis with cancer, Ashkenazi Jewish heritage, personal diagnosis with a particular cancer site or histology, or a syndromic presentation). However, many individuals who meet criteria for BRCA testing, Lynch syndrome testing, and/or testing for mutations in other cancer-predisposing genes have not been tested for various reasons, including insurability concerns (which are now less relevant thanks to the 2009 Genetic Information Nondiscrimination Act, or GINA, which protects against genetic discrimination in insurance or employment), costs, inadequate access to subsequent care, and emotional distress. Jagsi et al recently found among survivors of early-stage breast cancer that racial/ethnic minorities were less likely to have discussed genetic testing with a health professional even when they had a strong desire for testing, and that those who had received genetic testing were younger, less likely to be black, and more likely to have a family cancer history. Similarly, Levy et al reported that young survivors of early-stage breast cancer (diagnosed at age 40 years or younger) were less likely to have had genetic testing if they were black or Latina rather than white (even when Jewish women were excluded). Those enrolled in a health maintenance organization were also less likely to have been tested than those with point-ofservice insurance plans. Some patients may be too sick or distressed by their cancer and/or cancer treatment to pursue testing. Emotional barriers to genetic testing exist even in healthy populations. For example, in 2002, 76 black women at high risk for breast cancer were found to be less likely to agree to genetic testing if they were anticipating negative emotional responses to testing and were more concerned about result-based stigmatization. A decade later, a qualitative interview study of 120 Latina women at risk for BRCA mutations found that logistic concerns (e.g., health insurance coverage), emotional concerns (e.g., distress), and competing life concerns (e.g., caregiving responsibilities for children or other family members) were the biggest barriers to genetic testing. Historically, fear of loss of health insurance has been one of the greatest barriers to genetic testing. In fact, in a survey in 2000, a majority of 163 genetic counselors reported that they themselves would not have chosen to bill insurance for any genetic testing they might have needed, because of concern about potential discrimination based on the results. GINA was passed by Congress in 2008 to protect individuals from discrimination based on testing results. An interview study of 25 clinicians, 20 insurance executives, and six patient advocates identified poor coordination of tests relative to treatment decisions and reimbursement-related disincentives as the major barriers to BRCA testing. Five of the six