Changing the standardised obstetric care by expanded carrier screening and counselling: a multicentre prospective cohort study.

BACKGROUND: Expanded genetic screening before conception or during prenatal care can provide a more comprehensive evaluation of heritable fetal diseases. This study aimed to provide a large cohort to evaluate the significance of expanded carrier screening and to consolidate the role of expanded genetic screening in prenatal care. METHODS: This multicentre, retrospective cohort study was conducted between 31 December 2019 and 21 July 2022. A screening panel containing 302 genes and next-generation sequencing were used for the evaluation. The patients were referred from obstetric clinics, infertility centres and medical centres. Genetic counsellors conducted consultation for at least 15 min before and after screening. RESULTS: A total of 1587 patients were screened, and 653 pairs were identified. Among the couples who underwent the screening, 62 (9.49%) had pathogenic variants detected on the same genes. In total, 212 pathogenic genes were identified in this study. A total of 1173 participants carried at least one mutated gene, with a positive screening rate of 73.91%. Among the pathogenic variants that were screened, the gene encoding gap junction beta-2 (GJB2) exhibited the highest prevalence, amounting to 19.85%. CONCLUSION: Next-generation sequencing carrier screening provided additional information that may alter prenatal obstetric care by 9.49%. Pan-ethnic genetic screening and counselling should be suggested for couples of fertile age.

In adult tobacco smokers, adding e-cigarettes to standard smoking cessation counseling increased abstinence at 6 mo.

SOURCE CITATION: Auer R, Schoeni A, Humair JP, et al. Electronic nicotine-delivery systems for smoking cessation. N Engl J Med. 2024;390:601-610. 38354139.

Brief report: Physical activity assessment and counseling in adults with Down syndrome.

Adults with Down syndrome are at an increased risk for developing certain medical conditions, which can be further exacerbated by lower levels of physical activity. Physician counseling can provide a supportive environment to encourage modes of physical activity accessible to patients and caregivers. While some adults with Down syndrome have access to a Down syndrome specialty clinic, most are followed only by a primary care physician. This report includes adult patients with Down syndrome followed at a Down syndrome specialty clinic in Boston and compares physical activity assessment and counseling rates by Down syndrome specialists and primary care physicians. Patients were more likely to have physical activity assessment and counseling performed by a Down syndrome specialist than by a primary care physician. A better understanding of the barriers primary care physicians caring for adults with Down syndrome experience related to physical activity counseling could help improve important health habit counseling in this high-risk population.

Reassuring pregnancy outcomes in women with mild COL4A3-5-related disease (Alport syndrome) and genetic type of disease can aid personalized counseling.

Individualized pre-pregnancy counseling and antenatal care for women with chronic kidney disease (CKD) require disease-specific data. Here, we investigated pregnancy outcomes and long-term kidney function in women with COL4A3-5 related disease (Alport Syndrome, (AS)) in a large multicenter cohort. The ALPART-network (mAternaL and fetal PregnAncy outcomes of women with AlpoRT syndrome), an international collaboration of 17 centers, retrospectively investigated COL4A3-5 related disease pregnancies after the 20th week. Outcomes were stratified per inheritance pattern (X-Linked AS (XLAS)), Autosomal Dominant AS (ADAS), or Autosomal Recessive AS (ARAS)). The influence of pregnancy on estimated glomerular filtration rate (eGFR)-slope was assessed in 192 pregnancies encompassing 116 women (121 with XLAS, 47 with ADAS, and 12 with ARAS). Median eGFR pre-pregnancy was over 90ml/min/1.73m2. Neonatal outcomes were favorable: 100% live births, median gestational age 39.0 weeks and mean birth weight 3135 grams. Gestational hypertension occurred during 23% of pregnancies (reference: 'general' CKD G1-G2 pregnancies incidence is 4-20%) and preeclampsia in 20%. The mean eGFR declined after pregnancy but remained within normal range (over 90ml/min/1.73m2). Pregnancy did not significantly affect eGFR-slope (pre-pregnancy ß=-1.030, post-pregnancy ß=-1.349). ARAS-pregnancies demonstrated less favorable outcomes (early preterm birth incidence 3/11 (27%)). ARAS was a significant independent predictor for lower birth weight and shorter duration of pregnancy, next to the classic predictors (pre-pregnancy kidney function, proteinuria, and chronic hypertension) though missing proteinuria values and the small ARAS-sample hindered analysis. This is the largest study to date on AS and pregnancy with reassuring results for mild AS, though inheritance patterns could be considered in counseling next to classic risk factors. Thus, our findings support personalized reproductive care and highlight the importance of investigating kidney disease-specific pregnancy outcomes.

A point-of-care pilot randomized intervention to connect patients with cancer-induced financial toxicity to telehealth financial counseling.

PURPOSE: Elevated costs of cancer treatment can result in economic and psychological "financial toxicity" distress. This pilot study assessed the feasibility of a point-of-care intervention to connect adult patients with cancer-induced financial toxicity to telehealth-delivered financial counseling. METHODS: We conducted a three-armed parallel randomized pilot study, allocating newly referred patients with cancer and financial toxicity to individual, group accredited telehealth financial counseling, or usual care with educational material (1:1:1). We assessed the feasibility of recruitment, randomization, retention, baseline and post-intervention COmprehensive Score for Financial Toxicity (COST), and Telehealth Usability Questionnaire (TUQ) scores. RESULTS: Of 382 patients screened, 121 were eligible and enrolled. 58 (48%) completed the intervention (9 individual, 9 group counseling, 40 educational booklet). 29 completed follow-up surveys: 45% female, 17% African American, 79% white, 7% Hispanic, 55% 45-64 years old, 31% over 64, 34% lived in rural areas, 24% had cancer stage I, 21% II, 7% III, 31% IV. Baseline characteristics were balanced across arms, retention status, surveys completion. Mean (SD) COST was 12.4 (6.1) at baseline and 16.0 (8.4) post-intervention. Mean (SD) COST score differences were 6.3 (11.6) after individual counseling, 5.8 (8.5) after group counseling, and 2.5 (6.4) after usual care. Mean TUQ score among nine counseling participants was 5.5 (0.9) over 7.0. Non-parametric comparisons were not statistically meaningful. CONCLUSION: Recruitment and randomization were feasible, while study retention presented challenges. Nine participants reported good usability and satisfaction with telehealth counseling. Larger-scale trials focused on improving participation, retention, and impact of financial counseling among patients with cancer are justified.

Nutrition counselling and clinical outcomes in HIV: A systematic review and meta-analysis.

BACKGROUND: People living with the HIV (PLHIV) are at an increased risk of various diseases due to a weakened immune system, particularly if they are naïve or poorly adherent to antiretroviral therapy (ART). Nutrients play a critical role in improving immune health, especially among this population. We systematically reviewed the evidence concerning the impact of nutritional counselling on the occurrence of important clinical outcomes among PLHIV. METHODS: Medical literature databases (PubMed, EMBASE and Web of Science) were searched from inception to October 2022 for relevant published studies (n = 12) of nutritional counselling and HIV-related outcomes in adults on ART. Random-effects meta-analyses were conducted when the exposure-outcome relationships were similar in three or more studies. RESULTS: Although the methodologies of nutritional intervention varied across all studies, overall, the evidence from the meta-analysis indicates a nsignificant positive association between nutrition counselling and improvements in CD4 cell count, body mass index and low-density lipoprotein concentration. However, the existing literature does not provide enough evidence to establish a significant impact of nutrition counselling on other immune, anthropometric, and metabolic outcomes including viral load, weight, and lean mass due to the differences in the study designs. CONCLUSION: Well-powered randomized controlled trials are needed that explore the effect of evidence-based, individualized nutrition counselling on HIV-related clinical outcomes.

The role of an artificial intelligence model in antiretroviral therapy counselling and advice for people living with HIV.

OBJECTIVES: People living with HIV may find personalized access to accurate information on antiretroviral therapy (ART) challenging given the stigma and costs potentially associated with attending physical consultations. Artificial intelligence (AI) chatbots such as ChatGPT may help to lower barriers to accessing information addressing concerns around ART initiation. However, the safety and accuracy of the information provided remains to be studied. METHODS: We instructed ChatGPT to answer questions that people living with HIV frequently ask about ART, covering i) knowledge of and access to ART; ii) ART initiation, side effects, and adherence, and iii) general sexual health practices while receiving ART. We checked the accuracy of the advice against international HIV clinical practice guidelines. RESULTS: ChatGPT answered all questions accurately and comprehensively. It recognized potentially life-threatening scenarios such as abacavir hypersensitivity reaction and gave appropriate advice. However, in certain contexts, such as specific geographic locations or for pregnant individuals, the advice lacked specificity to an individual's unique circumstances and may be inadequate. Nevertheless, ChatGPT consistently re-directed the individual to seek help from a healthcare professional to obtain targeted advice. CONCLUSIONS: ChatGPT may act as a useful adjunct in the process of ART counselling for people living with HIV. Improving access to information on and knowledge about ART may improve access and adherence to ART and outcomes for people living with HIV overall.

Effectiveness of intensive adherence counselling in achieving an undetectable viral load among people on antiretroviral therapy with low-level viraemia in Uganda.

INTRODUCTION: Uganda was using a threshold of 1000 copies/mL to determine viral non-suppression for antiretroviral therapy monitoring among people living with HIV, prior to this study. It was not clear whether people living with HIV with low-level viraemia (LLV, ≥50 to <1000 copies/mL) would benefit from intensive adherence counselling (IAC). The purpose of this study was to determine the effectiveness of IAC among people living with HIV, receiving antiretroviral therapy, and with LLV in Uganda, to guide key policy decisions in HIV care, including the review of the viral load (VL) testing algorithm. METHODS: This cluster-randomized clinical trial comprised adults from eight HIV clinics who were living with HIV, receiving ART, and had recent VL results indicating LLV (tested from July 2022 to October 2022). Participants in the intervention arm clinics received three once-monthly sessions of IAC, and those in the comparison non-intervention arm clinics received the standard of care. At the end of the study, all participants were re-tested for VL to determine the proportions of those who then had an undetectable VL (<50 copies/mL). We assessed the statistical association between cross-tabulated variables using Fisher's exact test and then modified Poisson regression. RESULTS: A total of 136 participants were enrolled into the study at eight HIV clinics. All 68 participants in the intervention arm completed all IAC sessions. Only one participant in the non-intervention arm was lost to follow-up. The average follow-up time was 3.7 months (standard deviation [SD] 0.2) and 3.5 months (SD 0.1) in the intervention and non-intervention arms, respectively. In total, 59 (43.7%) of 135 people living with HIV achieved an undetectable VL during the study follow-up period. The effect of IAC on attaining an undetectable VL among people with LLV was nearly twice as high in the intervention arm (57.4%) than in the non-intervention arm (29.9%): adjusted risk ratio 1.9 (95% confidence interval 1.0-3.5), p = 0.037. CONCLUSION: IAC doubled the likelihood of an undetectable VL among people living with HIV with LLV. Therefore, IAC has been instituted as an intervention to manage people living with HIV with LLV in Uganda, and this should also be adopted in other Sub-Saharan African countries with similar settings. GOV IDENTIFIER: NCT05514418.

The Influence of Dietary Counseling Over 20 Years on Tracking of Non-High-Density Lipoprotein Cholesterol from Infancy to Young Adulthood.

This 26-year study found that non-high-density lipoprotein cholesterol (non-HDL-C) levels tracked from infancy to young adulthood suggesting early-life non-HDL-C could predict future levels. However, infancy-onset dietary counseling reduced the odds of maintaining at-risk non-HDL-C, highlighting the potential importance of early interventions in preventing cardiovascular risk associated with high pediatric non-HDL-C.

One Step Closer to Safer: Counseling Outcomes from American Academy of Pediatrics Firearm Safe Storage Education Training.

OBJECTIVE: To assess pre and postself-reported counseling outcomes for Safer: Storing Firearms Prevents Harm, an American Academy of Pediatrics universal firearm safe storage counseling training for pediatric clinicians providing health maintenance in outpatient settings. STUDY DESIGN: Safer was developed by a national multidisciplinary committee of firearm injury prevention experts with input from firearm-owning families and launched in June 2021. Pediatric clinicians completed baseline and 1-month posttraining surveys after signing up for the Pedialink course from February through June 2022. Primary outcomes included self-reported measures of counseling self-efficacy and frequency. Wilcoxon matched-pairs signed-rank tests compared outcome distributions at baseline and follow-up. Two adjusted, multilevel mixed-effects regression models were conducted. RESULTS: Of 230 clinicians who completed baseline surveys, 146 (64%) completed 1-month postsurveys. Regional representation included Southeast = 67 (46%), Northeast = 24 (16%), Midwest = 21 (14%), Pacific = 15 (10%), Southwest = 11 (8%), and Rocky Mountain = 8 (5%). At follow-up, there was significant improvement in both the distribution of self-efficacy (median [first Quartile-third Quartile = 50 [20-70] at baseline and 80 [60-85] at follow-up; P < .001) and self-reported counseling frequency (median [first Quartile-third Quartile] = 10 [0-50] at baseline and 50 [10-80] at follow-up; P < .001). Adjusted regression model results suggested that self-efficacy significantly improved from baseline to follow-up (time coefficient 25.3; 95% CI = [21.0, 29.5]; P < .001) as did counseling frequency (time coefficient 13.6; 95% CI = [9.2, 18.0]; P < .001). CONCLUSIONS: Significant improvement in self-reported counseling self-efficacy and frequency was demonstrated 1 month following Safer training.

A Multidisciplinary Approach Improves Sexual Health Care for Youth with Duchenne Muscular Dystrophy.

We sought to determine the prevalence of sexual health counseling in patients with Duchenne muscular dystrophy in a single-institution setting. Keywords related to sexual health and development concerns were documented at least once for 75% of patients across the duration of their care. Integration of sexual health discussions was facilitated by comprehensive multidisciplinary support, particularly with the inclusion of specialists in endocrinology and adolescent medicine.

Patients' Preferences Towards Decision Counseling for Active Surveillance After Neoadjuvant Chemoradiotherapy for Esophageal Cancer.

BACKGROUND: Decision counseling (DC) is offered to enable patients to reflect on their treatment preferences and to think through the consequences of alternative treatment options. However, the timing of DC is debatable. In this study, patients who underwent DC at different times were interviewed about their experiences, specifically focusing on the timing of DC. METHODS: Patients with locally advanced esophageal cancer eligible for participation in a prospective cohort study on active surveillance (SANO-2 study) were offered DC either before or after neoadjuvant chemoradiotherapy (nCRT). Structured interviews were conducted by phone 1 week after DC, and responses were analyzed using frequency counts for the answers to set response categories. The primary outcome was the preferred time to receive DC, while the secondary outcome was the overall experience of patients with DC. RESULTS: Overall, 40 patients were offered DC between 2021 and 2023. Patients who had counseling before the start of nCRT (n = 20) were satisfied with the timing of DC. Of the 20 patients who had DC after nCRT, 6 would have preferred counseling at an earlier time point. Patients who had DC both before or after the completion of nCRT reflected positively on DC. CONCLUSION: It is recommended to introduce the option of DC as early as possible and discuss with the patient at which moment during the decision-making process they prefer to discuss all treatment options more extensively.

Patient perspective in perceived comparative genetic mutation risk: An exploratory review.

The genetic risk of chronic diseases represents a complex medical setting in which individuals need to adapt to health conditions that manage daily living towards to healthy behaviours. This exploratory review focused on psychological counselling for genetic risk diagnosis. This study aimed to address the psychological management of the impact of genetic risk on chronic diseases. We performed a systematic search of MEDLINE via PubMed, Embase, Web of Science, PsycINFO and Scopus for articles from May 2012 to August 2023. A descriptive analysis of the characteristics of the included studies was conducted. Based on the exclusion/inclusion criteria, the literature search yielded 250 studies. Seventeen full texts were assessed for eligibility and 207 articles were excluded. Observational (n = 15) and randomised clinical trials (n = 2) were examined. Most studies have been conducted on oncological diagnoses; the emotional dimensions examined have been worry, depression, anxiety and stress in most diseases. Psychological measures are based on self-reports and questionnaires; few studies have investigated the connections between quality of life, psychological traits and emotional dimensions. The complexity of clinics and from daily diagnostic and treatment practices to the everyday experience of those living with the risk of disease might be addressed in counselling settings to improve quality of life in genetic risk, increasing mental adaptation to tailored chronic conditions. Thus, the empowerment of communication of genetic risk information should be part of the general trend towards personalised medicine.

Rates of Reproductive Counseling and Contraception Use in Patients with Heart Failure at a Tertiary Care Center.

BACKGROUND: Increasing numbers of women of childbearing age have cardiac disease, including heart failure (HF). In these women, pregnancy can cause significant morbidity and mortality. Contraceptive use and pregnancy counseling in women with HF is an essential part of their medical care. Here, we assess contraceptive use and pregnancy counseling of patients with HF at a single tertiary care center. METHODS AND RESULTS: This was a retrospective, single-center cohort study of female patients with HF with reduced ejection fraction, left ventricular assist devices (LVADs), and heart transplants who were seen in the adult advanced HF outpatient clinics. Patients were identified in the electronic health care record system, and records were reviewed to assess for documentation of contraception and pregnancy counseling. We identified 156 women of childbearing age (aged >18 to <45), seen in the HF clinics between 2018 and 2023. Patients were subdivided by their most recent diagnosis and therapy: HF with reduced ejection fraction (83 [53.2%]), LVAD (18 [11.5%]), and heart transplant (55 [35.3%]). Contraception was documented for 74% of women with HF, 56% of women with LVAD, and 85% of women with heart transplants. Pregnancy counseling was documented for 18.00% of women with HF, 0.06% of women with LVAD, and 29.00% of women with heart transplants. CONCLUSIONS: In our study, many women with HF, LVAD, or transplant have documented contraceptive therapy; however, pregnancy counseling seems to be limited. This vital aspect of medical care should be available for all patients given potential pregnancy-associated risks.

Fertility education: recommendations for developing and implementing tools to improve fertility literacy†.

Many recent societal trends have led to the need for fertility education, including the age at which individuals become parents, the development of new reproductive technologies, and family diversity. Fertility awareness has emerged as a concept very recently and is increasingly gaining recognition. However, fertility education is often neglected as there is no consensus on the appropriate content, target populations, or on who should provide it. This article attempts to provide an overview of the use of interventions to improve fertility education. We emphasize the importance of delivering evidence-based information on fertility and reproductive health through various methods while providing guidelines for their standardization and systematization. Recommendations are provided to aid the development and implementation of fertility education tools, including: the establishment of a comprehensive understanding of the target populations; the incorporation of theories of behavioural change; the inclusion of the users' perspectives and the use of participatory research; and the use of specific guidelines for increasing engagement. By following these recommendations, it is expected that fertility education resources can contribute to improving fertility literacy, empowering individuals and couples to make informed reproductive decisions, and ultimately reducing the incidence of infertility and need for fertility treatment.

Reproductive Health in Trans and Gender Diverse Patients: Fertility related knowledge, attitudes, and decision-making among gender diverse youth - A narrative review.

In brief: Transgender and gender diverse (TGD) youth demonstrate low utilization of fertility preservation before medical and surgical gender-affirming interventions. However, a significant number of TGD youth have goals for parenthood and/or recognize that their attitude toward future family-building goals may change over time. In this narrative review, we conclude that TGD young people should have ongoing opportunities to discuss their family-building goals and options for fertility preservation. Validated decision tools can help facilitate these discussions. Abstract: The number of transgender and gender diverse (TGD) youth seeking care continues to increase, necessitating comprehensive counseling about potential long-term effects of gender-affirming medical interventions on fertility. The objective of this narrative review was to examine fertility-related knowledge, attitudes, and decision-making (including factors influencing decisions, decision regret, and decision tools) among TGD youth. We searched PubMed, PsycInfo, and Google Scholar for original, peer-reviewed research investigating TGD youth attitudes and knowledge of fertility and fertility preservation, perspectives on fertility counseling and fertility preservation decision-making, as well as fertility-related decision tools. We reviewed 106 studies; eight were included in this narrative review. Four studies assessed TGD youth knowledge and attitudes of fertility and fertility preservation, three examined perspectives on fertility counseling and fertility preservation decision-making, and three discussed development of decision tools. Key findings were that: (1) many TGD youth are aware of potential fertility-related impacts of gender-affirming treatments, but there are still unmet informational needs, (2) some TGD youth report an interest in future biological parenthood, and of those who are not currently interested in biological parenthood, many acknowledge their desires may change over time, (3) ongoing discussions about fertility and fertility preservation are critical, and (4) decision tools are in development. In conclusion, TGD youth and their caregivers should receive ongoing, comprehensive fertility counseling and decision tools may be helpful to facilitate these discussions and decisions in each youth's gender-affirming care journey.

Maternal and child nutrition services associated with nutritional knowledge and practices, India.

Objective: To evaluate whether maternal and child nutrition activities provided through the Indian Integrated Child Development Services scheme in India were associated with improved nutritional knowledge and practices among beneficiary women. Methods: We used a multistage sampling design to randomly select 4400 pregnant women or mothers of children younger than 2 years for a cross-sectional telephone survey. The respondents were beneficiaries of the scheme from across 11 Indian states. We used multivariate regression models controlling for sociodemographic factors to estimate the association between: scheme activities and nutrition messages heard; and scheme activities and nutrition practices. We also estimated the proportion of the total association with nutrition practices which was mediated by nutrition messages. Results: Among 110 regression models testing unique pairs of seven activities and 18 nutrition messages, 103 showed a statistically significant positive relationship (median risk ratio, RR: 1.14). For activities and nine nutrition practices, 39 out of 54 tested pairs were significantly associated (median RR: 1.16). We observed statistically significant mediation through nutrition messages for 28 out of 42 tested pairs of activities and nutrition practices. Conclusion: Receipt of the scheme's activities was associated with improved nutrition knowledge and practices. Improvements in practices were statistically mediated by improvements in knowledge. These findings suggest that a large-scale nutrition scheme with a strong counselling component could successfully change beneficiary behaviours.

Effectiveness of Very Brief Advice on Tobacco Cessation: A Systematic Review and Meta-Analysis.

BACKGROUND: Very brief advice (VBA; ≤ 3 min) on quitting is practical and scalable during brief medical interactions with patients who smoke. This study aims to synthesize the effectiveness of VBA for smoking cessation and summarize the implementation strategies. METHODS: We searched randomized controlled trials aiming at tobacco abstinence and comparing VBA versus no smoking advice or no contact from Medline, Embase, CINAHL, Cochrane Library, PsycInfo databases, six Chinese databases, two trial registries ClinicalTrials.gov and WHO-ICTRP from inception to September 30, 2023. Grading of Recommendations, Assessment, Development, and Evaluations framework was used to assess the certainty of the evidence of the meta-analytic findings. The outcomes were self-reported long-term tobacco abstinence at least 6 months after treatment initiation, earlier than 6 months after treatment initiation, and quit attempts. Effect sizes were computed as risk ratio (RR) with 95% CI using frequentist random-effect models. DATA SYNTHESIS: Thirteen randomized controlled trials from 15 articles (n = 26,437) were included. There was moderate-certainty evidence that VBA significantly increased self-reported tobacco abstinence at ≥ 6 months in the adjusted model (adjusted risk ratio ARR 1.17, 95% CI: 1.07-1.27) compared with controls. The sensitivity analysis showed similar results when abstinence was verified by biochemical validation (n = 6 studies, RR 1.53, 95% CI 0.98-2.40). There was high-certainty evidence that VBA significantly increased abstinence at < 6 months (ARR 1.22, 95% CI: 1.01-1.47). Evidence of effect on quit attempts (ARR 1.03, 95% CI 0.97-1.08) was of very low certainty. DISCUSSION: VBA delivered in a clinical setting is effective in increasing self-reported tobacco abstinence, which provides support for wider adoption in clinical practice.