Feasibility and cost-effectiveness of genetic counselling for all patients with newly diagnosed ovarian cancer: a single-centre retrospective study.

BACKGROUND AND AIMS OF THE STUDY: Due to its importance for treatment and potential prevention in family members, germline testing for BRCA1/2 in patients with newly diagnosed ovarian cancer is decisive and considered a standard of care. Maintenance therapy with poly(ADP-ribose) polymerase (PARP) inhibitors substantially improves progression-free survival in patients with BRCA mutations and homologous recombination-deficient tumours by inducing synthetic lethality. In Switzerland, they are licensed only for these patients. Therefore, it is crucial to test patients early while they are receiving adjuvant chemotherapy. This study aimed to determine whether genetic counselling followed by homologous recombination deficiency testing is feasible for initialising maintenance therapy within eight weeks and cost-effective in daily practice in Switzerland compared to somatic tumour analysis of all patients at diagnosis. METHODS: This single-centre retrospective study included 44 patients with newly diagnosed high-grade serous ovarian cancer of a Federation of Gynaecology and Obstetrics (FIGO) stage of IIIA-IVB diagnosed between 12/2020 and 12/2022. It collected the outcomes of genetic counselling, germline testing, and somatic Geneva test for homologous recombination deficiency. Delays in initiating maintenance therapy, total testing costs per patient, and progression-free survival were examined to assess feasibility and cost-effectiveness in clinical practice. RESULTS: Thirty-seven of 44 patients (84%) with newly diagnosed ovarian cancer received counselling, of which 34 (77%) were tested for germline BRCA and other homologous recombination repair gene mutations. Five (15%) BRCA and three (9%) other homologous recombination deficiency mutations were identified. Eleven of the remaining 26 patients (42%) had tumours with somatic homologous recombination deficiency. The mean time to the initiation of maintenance therapy of 5.2 weeks was not longer than in studies for market authorisation (SOLO1, PAOLA, and PRIMA). The mean testing costs per patient were 3880 Swiss Franks (CHF), compared to 5624 CHF if all patients were tested at diagnosis with the myChoice CDx test (p <0.0001). CONCLUSION: Using genetic counselling to consent patients with newly diagnosed ovarian cancer for germline testing fulfils the international gold standard. Subsequent somatic homologous recombination deficiency analysis complements testing and identifies more patients who will benefit from PARP inhibitor maintenance therapy. Contrary to previous health cost model studies, the procedure does not increase testing costs in the Swiss population and does not delay maintenance therapy. Therefore, all patients should be offered a primary germline analysis. The challenge for the future will be to ensure sufficient resources for prompt genetic counselling and germline testing.

Randomized trial promoting cancer genetic risk assessment when genetic counseling cost removed: 1-year follow-up.

PURPOSE: Cancer genetic risk assessment (CGRA) is recommended for women with ovarian and high-risk breast cancer. However, the underutilization of CGRA has long been documented, and cost has been a major barrier. In this randomized controlled trial, a tailored counseling and navigation (TCN) intervention significantly improved CGRA uptake at 6-month follow-up, compared with targeted print (TP) and usual care (UC). We aimed to examine the effect of removing genetic counseling costs on CGRA uptake by 12 months. METHODS: We recruited racially and geographically diverse women with breast and ovarian cancer from cancer registries in Colorado, New Jersey, and New Mexico. Participants assigned to TCN received telephone-based psychoeducation and navigation. After 6 months, the trial provided free genetic counseling to participants in all arms. RESULTS: At 12 months, more women in TCN obtained CGRA (26.6%) than those in TP (11.0%; odds ratio [OR] = 2.77, 95% confidence interval [CI] = 1.56 to 4.89) and UC (12.2%; OR = 2.46, 95% CI = 1.41 to 4.29). There were no significant differences in CGRA uptake between TP and UC. The Kaplan-Meier curve shows that the divergence of cumulative incidence slopes (TCN vs UC, TCN vs TP) appears primarily within the initial 6 months. CONCLUSION: TCN significantly increased CGRA uptake at the 12-month follow-up. Directly removing the costs of genetic counseling attenuated the effects of TCN, highlighting the critical enabling role played by cost coverage. Future policies and interventions should address multilevel cost-related barriers to expand patients' access to CGRA. TRIAL REGISTRATION: This trial was registered with the NIH clinical trial registry, clinicaltrials.gov, NCT03326713. https://clinicaltrials.gov/ct2/show/NCT03326713.

Proposed use of entrustable professional activities (EPAs) in genetic counseling for clinical training and assessment.

We introduce Entrustable Professional Activities (EPAs) as a potential framework for clinical training and assessment in genetic counseling. We discuss advantages of this approach, review how EPAs complement Practice-Based Competencies (PBCs), describe our process of generating proposed "core" EPAs, provide examples of specialty-specific EPAs, discuss the concept of entrustment in clinical training, and propose an approach to implementation.

Genetic Testing Experiences of People Living with Inherited Retinal Degenerations: Results of a Global Survey.

INTRODUCTION: Obtaining a genetic diagnosis via genetic testing (GT) is a fundamental step in determining the eligibility of a patient to be enrolled in emerging clinical trials and research studies. Besides, the knowledge of genetic outcome allows patients to plan for significant life choices. However, critical barriers exist to an equitable access to genetic services globally. The objective of this study was to explore patient experiences while seeking genomic services for inherited retinal degenerations (IRDs). METHODS: An online survey was designed based on a focus group conducted by Retina International and including people affected by IRDs and their families living in different regions around the world. The survey was then circulated to 43 Retina International member organisations globally via email newsletters and social networks. The survey involved questions in relation to the accessibility, affordability, and timeliness of genomic services for IRDs as well as patient perceived awareness of genomic services for IRDs among healthcare professionals. RESULTS: A total of 410 respondents (IRD patients and caregivers) from over 30 countries across all continents responded to the survey. A considerable number of the patients had to go through a long and arduous journey to access GT and counselling services, wherein 40% had to visit more than 5 physicians, 27% had to visit more than 5 clinics, and 57% had to wait for more than 3 years before obtaining a genetic diagnosis. Furthermore, 46% of respondents reported not receiving genetic counselling prior to undergoing GT, and 39% reported not receiving genetic counselling after undergoing GT. Over 3/4th of the participants reported that they did not have to pay for their genomic services for IRDs. Thirty-seven percent of the respondents reported that their eye care professionals (ECPs) were either not aware of GT, remained neutral, or did not encourage them to undergo GT. CONCLUSION: Patients with IRDs do not have equitable access to best practice GT and counselling services. Greater awareness and training regarding IRDs and the benefits of GT and genetic counselling for patients and families are needed among ECPs. A best practice model on access to genomic services for IRDs is required.

A Randomized Trial of Two Remote Health Care Delivery Models on the Uptake of Genetic Testing and Impact on Patient-Reported Psychological Outcomes in Families With Pancreatic Cancer: The Genetic Education, Risk Assessment, and Testing (GENERATE) Study.

BACKGROUND & AIMS: Genetic testing uptake for cancer susceptibility in family members of patients with cancer is suboptimal. Among relatives of patients with pancreatic ductal adenocarcinoma (PDAC), The GENetic Education, Risk Assessment, and TEsting (GENERATE) study evaluated 2 online genetic education/testing delivery models and their impact on patient-reported psychological outcomes. METHODS: Eligible participants had ≥1 first-degree relative with PDAC, or ≥1 first-/second-degree relative with PDAC with a known pathogenic germline variant in 1 of 13 PDAC predisposition genes. Participants were randomized by family, between May 8, 2019, and June 1, 2021. Arm 1 participants underwent a remote interactive telemedicine session and online genetic education. Arm 2 participants were offered online genetic education only. All participants were offered germline testing. The primary outcome was genetic testing uptake, compared by permutation tests and mixed-effects logistic regression models. We hypothesized that Arm 1 participants would have a higher genetic testing uptake than Arm 2. Validated surveys were administered to assess patient-reported anxiety, depression, and cancer worry at baseline and 3 months postintervention. RESULTS: A total of 424 families were randomized, including 601 participants (n = 296 Arm 1; n = 305 Arm 2), 90% of whom completed genetic testing (Arm 1 [87%]; Arm 2 [93%], P = .014). Arm 1 participants were significantly less likely to complete genetic testing compared with Arm 2 participants (adjusted ratio [Arm1/Arm2] 0.90, 95% confidence interval 0.78-0.98). Among participants who completed patient-reported psychological outcomes questionnaires (Arm 1 [n = 194]; Arm 2 [n = 206]), the intervention did not affect mean anxiety, depression, or cancer worry scores. CONCLUSIONS: Remote genetic education and testing can be a successful and complementary option for delivering genetics care. (Clinicaltrials.gov, number NCT03762590).

"Learning with each other, about each other": Interdisciplinary learning among genetic counseling students and clinical health psychology residents.

Interprofessional collaborative healthcare is known to improve provider satisfaction and retention, as well as patient safety and quality of care. The specific knowledge, skills, and attitudes required to work in these environments are best taught interprofessionally. Despite having considerable overlap in training, orientation, and populations served, it is rare for trainees from genetic counseling and clinical health psychology to interact and learn together. In 2017, we developed an innovative week-long clinical health psychology rotation for students in the University of Manitoba MSc in Genetic Counselling Program, which aims to enrich psychotherapeutic/counseling knowledge and skills, as well as gain familiarity with the work of clinical psychologists. This rotation incorporates didactic teaching, observation, and structured reflection. Didactic teaching includes topics such as psychological assessment, adaptation to life-altering news, skills for managing intense emotional responses, and counseling for change. Observations of clinical health psychologists and clinical health psychology residents occur in a range of health settings. Structured reflection is practiced in both oral and written formats. Finally, both groups of trainees participate in an interprofessional case seminar series. Feedback from this experience has been very promising, and it was identified as a strength in the program's accreditation review. Adaptations over time include refining the clinical exposures to increase breadth and relevance, increasing the contact between the trainees from the two professions and enhancing the case seminar series to be more learner-driven and to focus on explicit interprofessional skills and themes. In addition to expected results, this rotation has led to some unanticipated findings, including an emergent emphasis on the social determinants of health and the need to work collaboratively for systemic change. Further, psychology residents have identified that it benefits them to learn more about genetic counseling and expressed interest in potential reciprocal learning opportunities in genetics clinics.

Genetic risk assessment in breast and gynecologic malignancies- what's to know in 2024?

PURPOSE OF REVIEW: Hereditary cancer risk assessment and counseling have become integral in oncology care, especially in breast and gynecologic malignancies where genetic test results impact management. However, a large number of patients who could benefit from genetic testing are not getting tested. As such, genetic risk assessment and counseling methods have had to evolve to meet the needs of this expanding patient population. RECENT FINDINGS: "Mainstreaming" genetic testing is an initiative to incorporate genetic testing into routine cancer care in lieu of the traditional genetic counseling model to improve uptake of testing while minimizing expansion of genetic counselor and clinic resources. These models have performed well in various institutions demonstrating an improvement in clinical efficacy. However, missed opportunities from the preventive care standpoint, a core value of cancer genetics risk assessment, have become apparent. The focus of these models is on the patient's cancer diagnosis and comprehensive/familial genetic risk assessment is not often completed. SUMMARY: Identifying patients at an increased risk of cancer, even in the absence of a hereditary cancer predisposition syndrome, is important in tailoring screening and preventive measures. As we look to the future, we need to critically approach mainstreaming and determine how to reincorporate comprehensive genetic risk assessment into our models.

Design and pilot implementation of the Achieving Cancer Equity through Identification, Testing, and Screening (ACE-ITS) program in an urban underresourced population.

INTRODUCTION: The Achieving Cancer Equity through Identification, Testing, and Screening (ACE-ITS) program is a community-engaged framework to improve mammography maintenance and rates of genetic risk assessment, counseling, and testing using a multilevel approach that enhances patient navigation through mobile health and community education. METHODS: The ACE-ITS program is based on the National Institute of Minority Health and Health Disparities research framework focused on the individual (genetic testing, screening navigation) and community (community-based breast health education) levels and targeted to the biological- (genetic risk), behavioral- (mammography screening), sociocultural- (underserved Black and Hispanic women), and the health care system (patient navigation, automated text messages)-related domains. We further integrate the Practical Robust Implementation and Sustainability Model to describe our program implementation. RESULTS: In collaboration with genetic counselors and community partners, we created educational modules on mammography maintenance and genetic counseling/testing that have been incorporated into the navigator-led community education sessions. We also implemented a universal genetic risk assessment tool and automated text message reminders for repeat mammograms into our mammography navigation workflow. Through the ACE-ITS program implementation, we have collaboratively conducted 22 educational sessions and navigated 585 women to mammography screening over the 2020-2021 calendar years. From January to December 2021, we have also conducted genetic risk assessment on 292 women, of whom 7 have received genetic counseling/testing. CONCLUSIONS: We describe a multilevel, community-engaged quality improvement program designed to reduce screening-related disparities in Black and Hispanic women in our catchment area.

Identifying Mediators of Intervention Effects Within a Randomized Controlled Trial to Motivate Cancer Genetic Risk Assessment Among Breast and Ovarian Cancer Survivors.

BACKGROUND: A theory-guided Tailored Counseling and Navigation (TCN) intervention successfully increased cancer genetic risk assessment (CGRA) uptake among cancer survivors at increased risk of hereditary breast and ovarian cancer (HBOC). Understanding the pathways by which interventions motivate behavior change is important for identifying the intervention's active components. PURPOSE: We examined whether the TCN intervention exerted effects on CGRA uptake through hypothesized theoretical mediators. METHODS: Cancer survivors at elevated risk for HBOC were recruited from three statewide cancer registries and were randomly assigned to three arms: TCN (n = 212), Targeted Print (TP, n = 216), and Usual Care (UC, n = 213). Theoretical mediators from the Extended Parallel Process Model, Health Action Planning Approach, and Ottawa Decision Support Framework were assessed at baseline and 1-month follow-up; CGRA uptake was assessed at 6 months. Generalized structural equation modeling was used for mediation analysis. RESULTS: The TCN effects were most strongly mediated by behavioral intention alone (ß = 0.49 and 0.31) and by serial mediation through self-efficacy and intention (ß = 0.041 and 0.10) when compared with UC and TP, respectively. In addition, compared with UC, the TCN also increased CGRA through increased perceived susceptibility, knowledge of HBOC, and response efficacy. CONCLUSIONS: Risk communication and behavioral change interventions for hereditary cancer should stress a person's increased genetic risk and the potential benefits of genetic counseling and testing, as well as bolster efficacy beliefs by helping remove barriers to CGRA. System-level and policy interventions are needed to further expand access.

It is recommended that cancer survivors at increased risk for heredity seek cancer genetic risk assessment (CGRA), which includes cancer genetic counseling and genetic testing. A Tailored Counseling and Navigation (TCN) intervention successfully increased CGRA uptake among women with a history of cancer who enrolled in a randomized controlled trial. Understanding reasons for TCN's effectiveness can guide future interventions that use risk messages and behavior change techniques. We conducted mediation analyses, which enabled identification of the TCN's active components. Eligible breast and ovarian cancer survivors (n = 641) were recruited from three statewide cancer registries and were assigned to three groups: TCN, Targeted Print, and Usual Care. Mediator variables drawn from behavioral and risk communication theories were assessed at baseline and 1-month follow-up; CGRA uptake was assessed at 6 months. The strongest mediator was intention to obtain a CGRA, followed by self-efficacy, perceived risk, knowledge of hereditary breast and ovarian cancer, and perceived CGRA benefits. Risk communication and behavioral change interventions for hereditary cancer should stress a person's increased genetic risk and the potential benefits of genetic counseling and testing, as well as bolster efficacy beliefs by helping remove CGRA barriers. System-level and policy interventions are needed to further expand access.

The genetic counselor workforce in inherited retinal disease clinics: a descriptive assessment.

BACKGROUND: Genetic counselors (GCs) have practiced in Inherited Retinal Disease (IRD) clinics for several decades. In this small subspecialty of genetic counseling, GCs are critical for patient understanding of genetic information, which can have prognostic, systemic, family planning and therapeutic implications. Recently, both access to genetic testing for IRDs and the number of genes associated with IRDs (>350) has increased dramatically. However, the practice models and roles of IRD GCs have not been previously described. MATERIALS AND METHODS: GCs working in academic IRD clinics were surveyed to assess their experience, clinical practices, and roles performed. The collected data was compared to the broader genetic counseling profession and to other specialties using publicly available data on GC professional practices. RESULTS: While roles of IRD GCs were overlapping with those of the overall genetic counseling profession, all survey respondents reported diverse roles that included both clinical and non-clinical duties, spending up to half their time on research and educational responsibilities. Most respondents (89%) felt that their clinic's MD to GC ratio was too high, while clinical load varied. IRD GCs report varying degrees of prior genetic counseling and ophthalmology-specific experience but unanimously desire additional subspecialty-specific training. CONCLUSIONS: This descriptive assessment of a small subspecialty suggests a need for growth in the number of GCs practicing in IRD clinics and could help to inform development of new GC positions in IRD centers. It also highlights the desire for additional GC-specific education and may be relevant to curriculum development within GC programs.

A Community Health Worker Model to Support Hereditary Cancer Risk Assessment and Genetic Testing.

OBJECTIVE: To evaluate the effects of a community health worker-supported hereditary cancer risk-assessment and genetic testing program in a safety-net hospital serving more than 70% medically underserved patients. METHODS: This community health worker pilot program began in January 2020 at women's health clinics by administering original National Comprehensive Cancer Network (NCCN)-based questionnaires. Patients meeting high-risk criteria were offered video-based genetic education and testing, notified of results using telehealth, and offered indicated counseling. We compared the rate of genetic counseling and testing in the first 18 months of the pilot program with that in the prior 18 months. RESULTS: In the first 18 months of the pilot program, 940 patients were screened through the community health worker program: 196 were identified as high-risk, 103 patients were tested, and pathogenic variants were identified in 10 (9.7%), two of whom had a personal cancer history. In addition, 73 patients were tested per usual practice by a certified genetic counselor: pathogenic variants were identified in 16 (21.9%), 11 (68.8%) of whom had a personal cancer history. In the 18 months before the program, 68 patients underwent genetic testing with a certified genetic counselor, pathogenic variants were identified in 16 (23.5%), 13 (81.3%) of whom had a personal cancer history. The community health worker program led to a significant increase in testing among unaffected patients based on family history alone (odds ratio [OR] 7.0; 95% CI 3.7-13.2; P <.001), paralleled by a respective significant increase in the identification of pathogenic variants (OR 4.33; 95% CI 1.0-18.9; P =.051). CONCLUSION: This pilot program demonstrates the feasibility of a community health worker-supported program, using self-administered questionnaires and telehealth-based genetic services in a primarily medically underserved population. This program improved the detection of unaffected high-risk patients based on family history, increasing the volume of tests performed for this indication. Programs of this type may improve family history-based hereditary cancer testing in medically underserved patients, further enabling cancer-prevention strategies.

Implementing preconception expanded carrier screening in a universal health care system: A model-based cost-effectiveness analysis.

PURPOSE: The limited evidence available on the cost-effectiveness (CE) of expanded carrier screening (ECS) prevents its widespread use in most countries, including Italy. Herein, we aimed to estimate the CE of 3 ECS panels (ie, American College of Medical Genetics and Genomics [ACMG] Tier 1 screening, "Focused Screening," testing 15 severe, highly penetrant conditions, and ACMG Tier 3 screening) compared with no screening, the health care model currently adopted in Italy. METHODS: The reference population consisted of Italian couples seeking pregnancy with no increased personal/familial genetic risk. The CE model was developed from the perspective of the Italian universal health care system and was based on the following assumptions: 100% sensitivity of investigated screening strategies, 77% intervention rate of at-risk couples (ARCs), and no risk to conceive an affected child by risk-averse couples opting for medical interventions. RESULTS: The incremental CE ratios generated by comparing each genetic screening panel with no screening were: -14,875 ± 1,208 €/life years gained (LYG) for ACMG1S, -106,863 ± 2,379 €/LYG for Focused Screening, and -47,277 ± 1,430 €/LYG for ACMG3S. ACMG1S and Focused Screening were dominated by ACMG3S. The parameter uncertainty did not significantly affect the outcome of the analyses. CONCLUSION: From a universal health care system perspective, all the 3 ECS panels considered in the study would be more cost-effective than no screening.

Commonalities and contrasts: North American program directors' perspectives on genetic counseling education.

There is currently a gap in the literature regarding education by and for genetic counseling (GC) students and genetic counselors. Since little is written about current strategies used in GC graduate programs, we conducted a qualitative semi-structured interview study of North American GC program directors to learn about their educational goals and practices. We recruited 25 program directors from the United States and Canada through the Association of Genetic Counseling Program Directors for interviews using a video conferencing platform. Interviews were recorded and transcribed, followed by content analysis to analyze education frameworks; processes of program planning and development; approaches and strategies for teaching and assessing GC core knowledge and skills; and systemic factors that influence GC education. We emphasized areas that are challenging to teach, particularly ethical, legal, and social issues (ELSI); disability issues; genomics; counseling skills; diversity, equity, inclusion, justice (DEIJ) issues; professional identity; research skills; and teaching skills. We found commonalities supported by standards and practice-based competencies and also a rich diversity of program cultures, approaches, and techniques for teaching and assessing genetic counseling skills. There was a consistent theme of integration across the program for all areas examined. A multilayered, comprehensive approach to DEIJ issues was advocated. Planned change was a logical outcome of program assessment, while unplanned change called for flexibility and creativity. The description of GC educational practices provides documentation of current approaches and strategies, guidance for new GC programs, and inspiration for continued evolution of existing GC graduate programs.

Disclosure and comfort during genetic counseling sessions with LGBTQ+ patients: An updated assessment.

Disclosure is the act of sharing a stigmatized identity, and members of the LGBTQ+ community make decisions related to disclosure multiple times throughout their life. Disclosure in medical settings can impact perceptions of care and outcomes for LGBTQ+ patients; however, little is understood about the process of decision-making regarding disclosure in the genetic counseling setting. As such, this study aimed to explore LGBTQ+ experiences in genetic counseling sessions and their disclosure behaviors. Fifty-five LGBTQ+ individuals who attended a genetic counseling session and 91 genetic counselors completed online surveys. The patient survey assessed for disclosure behaviors, experiences of discrimination, and comfort in genetic counseling sessions. The counselor survey evaluated comfort with the LGBTQ+ population in a counseling setting, whether counselors facilitate disclosure in sessions, and whether counseling is tailored for the LGBTQ+ population. Eighty-two percent of genetic counselors "rarely" or "never" ask about sexual orientation, and 69% "rarely" or "never" ask about gender identity. The majority of patients indicated they were not asked about their sexual orientation (87%) or gender identity (80%). Some patients reported experiencing discrimination or homo/transphobia in their genetic counseling sessions, with 6.12% of LGBQ+ patients experiencing discrimination and 24.1% of trans+ patients reporting discrimination. Over half of genetic counselors reported receiving training in LGBTQ+ healthcare and the majority reported comfort with providing care to LGBTQ+ patients. However, discrepancies between patient-reported experiences and genetic counselors' descriptions of their care for the LGBTQ+ population warrant further research and suggest additional training or changes in practice may be necessary.

Improving Uptake of Cancer Genetic Risk Assessment in a Remote Tailored Risk Communication and Navigation Intervention: Large Effect Size but Room to Grow.

PURPOSE: Cancer genetic risk assessment (CGRA) is recommended for women with ovarian cancer or high-risk breast cancer, yet fewer than 30% receive recommended genetic services, with the lowest rates among underserved populations. We hypothesized that compared with usual care (UC) and mailed targeted print (TP) education, CGRA uptake would be highest among women receiving a phone-based tailored risk counseling and navigation intervention (TCN). METHODS: In this three-arm randomized trial, women with ovarian or high-risk breast cancer were recruited from statewide cancer registries in Colorado, New Jersey, and New Mexico. Participants assigned to TP received a mailed educational brochure. Participants assigned to TCN received the mailed educational brochure, an initial phone-based psychoeducational session with a health coach, a follow-up letter, and a follow-up navigation phone call. RESULTS: Participants' average age was 61 years, 25.4% identified as Hispanic, 5.9% identified as non-Hispanic Black, and 17.5% lived in rural areas. At 6 months, more women in TCN received CGRA (18.7%) than those in TP (3%; odds ratio, 7.4; 95% CI, 3.0 to 18.3; P < .0001) or UC (2.5%; odds ratio, 8.9; 95% CI, 3.4 to 23.5; P < .0001). There were no significant differences in CGRA uptake between TP and UC. Commonly cited barriers to genetic counseling were lack of provider referral (33.7%) and cost (26.5%), whereas anticipated difficulty coping with test results (14.0%) and cost (41.2%) were barriers for genetic testing. CONCLUSION: TCN increased CGRA uptake in a group of geographically and ethnically diverse high-risk breast and ovarian cancer survivors. Remote personalized interventions that incorporate evidence-based health communication and behavior change strategies may increase CGRA among women recruited from statewide cancer registries.

Expanded carrier screening for reproductive risk assessment: An evidence-based practice guideline from the National Society of Genetic Counselors.

Expanded carrier screening (ECS) intends to broadly screen healthy individuals to determine their reproductive chance for autosomal recessive (AR) and X-linked (XL) conditions with infantile or early-childhood onset, which may impact reproductive management (Committee Opinion 690, Obstetrics and Gynecology, 2017, 129, e35). Compared to ethnicity-based screening, which requires accurate knowledge of ancestry for optimal test selection and appropriate risk assessment, ECS panels consist of tens to hundreds of AR and XL conditions that may be individually rare in various ancestries but offer a comprehensive approach to inherited disease screening. As such, the term "equitable carrier screening" may be preferable. This practice guideline provides evidence-based recommendations for ECS using the GRADE Evidence to Decision framework (Guyatt et al., BMJ, 2008, 336, 995; Guyatt et al., BMJ, 2008, 336, 924). We used evidence from a recent systematic evidence review (Ramdaney et al., Genetics in Medicine, 2022, 20, 374) and compiled data from peer-reviewed literature, scientific meetings, and clinical experience. We defined and prioritized the outcomes of informed consent, change in reproductive plans, yield in identification of at-risk carrier pairs/pregnancies, perceived barriers to ECS, amount of provider time spent, healthcare costs, frequency of severely/profoundly affected offspring, incidental findings, uncertain findings, patient satisfaction, and provider attitudes. Despite the recognized barriers to implementation and change in management strategies, this analysis supported implementation of ECS for these outcomes. Based upon the current level of evidence, we recommend ECS be made available for all individuals considering reproduction and all pregnant reproductive pairs, as ECS presents an ethnicity-based carrier screening alternative which does not rely on race-based medicine. The final decision to pursue carrier screening should be directed by shared decision-making, which takes into account specific features of patients as well as their preferences and values. As a periconceptional reproductive risk assessment tool, ECS is superior compared to ethnicity-based carrier screening in that it both identifies more carriers of AR and XL conditions as well as eliminates a single race-based medical practice. ECS should be offered to all who are currently pregnant, considering pregnancy, or might otherwise biologically contribute to pregnancy. Barriers to the broad implementation of and access to ECS should be identified and addressed so that test performance for carrier screening will not depend on social constructs such as race.