[HOW SIMPLE IS "SIMPLE" GENETIC COUNSELING?]

INTRODUCTION: Genetic counselors are often compared with other medical professionals in terms of productivity, based on the number of patients seen and the time required for each patient. Prenatal genetic counseling before amniocentesis in uneventful pregnancies is considered to be a "simple" counseling, with potentially less time required for each patient. Thus, in some medical centers the duration of such consultations is limited to provide only the basic explanation without detailed collection of personal and family history, while in others the explanation is given to several patients together. AIMS: To assess the need for extended genetic counseling during supposedly "simple" genetic consultations before amniocentesis. METHODS: Data was collected from January 2018 until August 2020 of all patients undergoing genetic counseling before amniocentesis due to advanced maternal age, abnormal biochemical screening, or without medical indication. The consultations were given by four genetic counselors and two medical geneticists. The need for extended genetic counseling was evaluated based on pedigree and the discussion summaries and recommendations noted in genetic counseling summaries. RESULTS: Of the 1085 relevant counseling appointments, 657 (60.5%) required additional explanation beyond the basic consultation. The reasons for extended counseling included medical disorders of the woman or spouse (21.2%), carrier state for autosomal recessive diseases (18.6%), diagnosed or suspected genetic conditions of a child or previous pregnancy (9.6%), or medical disorders in the extended family (79.1%). In 31.0% of patients, recommended carrier screening tests were recommended or added. In 32.3% of cases, only one extra subject was counseled, in 16.3% two subjects, and in 5%, three subjects or more. The additional explanations were estimated as short (up to 5 minutes) in 36.9% of the cases, intermediate (5 to 15 minutes) in 59.9%, and long (over 15 minutes) in 2.6% of cases. The consultation's duration was not affected from it being a first meeting or a recurrent consultation. CONCLUSIONS: The need for further explanation was demonstrated in over 60% of genetic consultations, performed prior to amniocentesis due to supposedly "simple" indication. DISCUSSION: This fact reflects the importance of formal genetic counseling even in cases of seemingly simple indications, with an emphasis on detailed personal and family history, dedicating sufficient time to the counseling itself. Alternatively, it is important to exercise extra caution when conducting a short explanatory conversation prior to amniocentesis, including detailed questionnaires and the patient's signature on the possible limitations of such explanations.

Compliance and satisfaction with BRCA surveillance in specialized clinics versus community follow-up.

OBJECTIVE: To assess adherence to medical follow-up protocols among BRCA1/2 carriers and compare outcomes between dedicated carrier clinics and community healthcare settings. METHODS: This cross-sectional study was conducted by distributing an anonymous questionnaire within the 'Good BRCA Genes - Support and Information Group for BRCA Carriers' association. The questionnaire assessed adherence to recommended surveillance and satisfaction with various aspects of the follow-up. RESULTS: Of the 682 BRCA carriers surveyed, 68.5% reported fully adhering to recommended medical follow-up. Those not fully adhering cited bureaucracy challenges, scheduling difficulties, timing uncertainties, and difficulty remembering examination dates. Less than 50% were satisfied with appointment availability, scheduling, contact persons, and general practitioners' knowledge of BRCA carrier risks and follow-up. The 417 women monitored in dedicated breast clinics reported notably higher optimal adherence to recommended surveillance (78.3 vs. 53.6%, P < 0.0001). In addition, they noted greater satisfaction with appointment availability (63.7 vs. 25.0%, P < 0.0001), appointment scheduling process (58.1 vs. 24.7%, P < 0.0001), availability of breast surgeons/gynecology specialists (67.4 vs. 50.8%, P < 0.0001), and availability of a contact person for consultations between appointments (53.5 vs. 20.8%, P < 0.0001). DISCUSSION: Our findings highlight the advantages of surveillance in dedicated BRCA1/2 clinics, including closer monitoring and increased satisfaction. Given the limited availability of such clinics and the growing number of BRCA1/2 carriers, the opening of additional dedicated clinics and the consideration of alternative surveillance-enhancing solutions, such as training healthcare professionals, using digital tools, and employing artificial intelligence, are essential.

Recommendations of Health Care Professionals on the Issue of Breastfeeding in BRCA Carriers.

Purpose: Breastfeeding is associated with numerous short- and long-term neonatal and maternal health benefits. Specifically, in BRCA1/2 female carriers, breastfeeding has been shown to reduce the considerably increased risks of breast and ovarian cancer. Nevertheless, there is paucity of data referring to the recommended postpartum surveillance of BRCA1/2 carriers. The purpose of this study was to evaluate the recommendations of health professionals regarding breastfeeding in BRCA carriers. Methods: This cross-sectional survey was conducted using an anonymous questionnaire distributed through the "Good BRCA Genes-a support and information group for BRCA carriers" association. The questionnaire included Likert scale and open-ended questions, aimed to evaluate the performance of health professionals at various aspects of the recommended follow-up. Results: Of the 388 participants, 233 (60.0%) expressed dissatisfaction with explanations provided by health professionals regarding pregnancy and breastfeeding. Women reporting dissatisfaction with explanations were younger (36.8 ± 7.0 years) compared to those satisfied with the explanations (38.8 ± 7.6 years, p = 0.0081). No significant differences were noted between women satisfied and those dissatisfied with the explanations in terms of age of genetic diagnosis, origin, religion, geographic location, and the rates of personal or familial cancer history. Of the 175 responses to an open question "please describe the reasons for unsatisfactory explanation," 76.6% stated they received no explanation on the subject, whereas 5.4% described minimal explanation or conflicting recommendations. Surprisingly, 4.7% recalled being advised to avoid, stop, or limit breastfeeding. Discussion: The results of this survey emphasize the lack of knowledge of health professionals on the issue of breastfeeding in BRCA carriers. As genetic variants in these genes involve significant proportion of the population (up to 2.5% in Ashkenazi Jewish population), raising the awareness of health care personnel to the benefits of breastfeeding in these women seems prudent.

How to talk with patients about weight? Viewpoints of 1697 individuals with overweight and obesity.

OBJECTIVES: To evaluate the preferences of individuals with overweight and obesity regarding the optimal approach for discussing the excess weight during medical appointments. METHODS: The cross-sectional study was conducted by distribution of an anonymous questionnaire in social media platforms during September 2020, aiming for respondents with body mass index over 25 kg/m2. RESULTS: The questionnaire was completed by 1697 participants, mostly female. Only 14.5% agreed that the weight issue should be brought up at medical appointments, while 69.3% preferred health practitioners to ask for a preliminary agreement to talk about the excess weight. The participants were frequently advised to lose weight without them wanting to talk about this (65.0%), when the reason for their appointment was irrelevant to the excess weight (60.4%), and without receiving any effective and practical tools on losing weight (60.1%). CONCLUSIONS: Health practitioners should ask the patient for a preliminary permission to discuss the issue of excess weight during medical appointments. PRACTICE IMPLICATIONS: Discussing the subject of weight during medical appointments should be done in a sensitive and respectful manner. Health practitioners should learn more about the numerous reasons for obesity, the adverse effects of weight stigmatization, and the practical tools to lose weight.

Experiences of weight stigmatization in the Israeli healthcare system among overweight and obese individuals.

INTRODUCTION: Weight stigmatization, a common phenomenon in the healthcare system, exerts numerous adverse consequences on patients' wellbeing. The objective of this study was to estimate the extent and characteristics of weight stigmatization in Israel, based on the reports of overweight and obese individuals. METHODS: This study was performed by distribution of a cross-sectional open anonymous survey in social media platforms, targeting respondents with body mass index over 25 kg/m2. The questionnaire consisted of Likert-scale based as well as open-ended questions, evaluating the experience during past medical appointments. Our primary outcome was the prevalence of disrespectful treatment. Subgroup analysis was performed by various demographic characteristics. RESULTS: Of the 1697 respondents, 59.0% reported frequent experiences of disrespectful approach, and 48.6% noted receiving suboptimal treatment related to excess weight. Insulting, insensitive and judgmental comments were noted by 58%, stemming from diverse healthcare disciplines, while 29.3% noted office equipment not suitable for overweight people. Avoidance of a needed medical appointment was reported by 40.5%, significantly associated with past adverse experiences of weight stigmatization in the healthcare system. The respondents offered numerous suggestions to improve the existing situation, including education of the medical personnel, thorough research of obesity, and establishment of specific guidelines for approach to patients with excess weight. CONCLUSION: Weight stigmatization is prevalent in Israeli healthcare system; thus, decreasing the rates of this phenomenon should be an important national goal. Formal education about the wide prevalence and adverse effects of weight stigmatization should be practiced by academic institutions, professional organizations, and regulatory bodies. Straightforward policies with continuing supervision should be endorsed by the healthcare system to prevent weight-based discrimination. Finally, appropriate-size equipment for obese patients should become one of the requirements for accreditation of medical centers and facilities.