Post-test Counseling Research Articles

International Society for Prenatal Diagnosis Updated Position Statement on the use of genome-wide sequencing for prenatal diagnosis.

The research and clinical use of genome-wide sequencing for prenatal diagnosis of fetuses at risk for genetic disorders have rapidly increased in recent years. Current data indicate that the diagnostic rate is comparable and for certain indications higher than that of standard testing by karyotype and chromosomal microarray. Responsible clinical implementation and diagnostic use of prenatal sequencing depends on standardized laboratory practices and detailed pre-test and post-test counseling. This Updated Position Statement on behalf of the International Society for Prenatal Diagnosis recommends best practices for the clinical use of prenatal exome and genome sequencing from an international perspective. We include several new points for consideration by researchers and clinical service and laboratory providers.

Managing Pandora’s Box: Familial Expectations around the Return of (Future) Germline Results

Background Pediatric oncology patients are increasingly being offered germline testing to diagnose underlying cancer predispositions. Meanwhile, as understanding of variant pathogenicity evolves, planned reanalysis of genomic results has been suggested. Little is known regarding the types of genomic information that parents and their adolescent children with cancer prefer to receive at the time of testing or their expectations around the future return of genomic results. Methods Parents and adolescent children with cancer eligible for genomic testing for cancer predisposition were surveyed regarding their attitudes and expectations for receiving current and future germline results (ClinicalTrials.gov Identifier: NCT02530658). Results All parents (100%) desired to learn about results for treatable or preventable conditions, with 92.4% wanting results even when there is no treatment or prevention. Parents expressed less interest in receiving uncertain results for themselves (88.3%) than for their children (95.3%). Most parents (95.9%) and adolescents (87.9%) believed that providers have a responsibility to share new or updated germline results indefinitely or at any point during follow-up care. Fewer parents (67.5%) indicated that they would want results if their child was deceased: 10.3% would not want to be contacted, 19.3% were uncertain. Conclusions Expectations for return of new or updated genomic results are high among pediatric oncology families, although up to one third of parents have reservations about receiving such information in the event of their child’s death. These results underscore the importance of high-quality pre-and post-test counseling, conducted by individuals trained in consenting around genomic testing to elicit family preferences and align expectations around the return of germline results.

Values and preferences of the general population in Indonesia in relation to rapid COVID-19 antigen self-tests: A cross-sectional survey.

ObjectivesHome diagnostics are essential to assist members of the general population become active agents of case detection. In Indonesia, a country with an over‐burdened healthcare system, individuals could use rapid SARS‐CoV‐2 antigen tests to self‐detect COVID‐19. To assess the general population's values and attitudes towards SARS‐CoV‐2 self‐testing, a survey was conducted in mid‐2021 in Jakarta and the provinces of Banten and North Sulawesi.MethodsThis was a quantitative survey that approached respondents in >600 randomly selected street‐points in the three study geographies in July–August 2021. A 35‐item questionnaire was used to collect data on key variables, such as likelihood to use a SARS‐CoV‐2 self‐test, willingness to pay for a self‐test device, and likely actions following a positive self‐test result. Bivariate and multivariate regression analyses were performed.ResultsOf 630 respondents (318 were female), 15.53% knew about COVID‐19 self‐testing, while 62.70% agreed with the idea of people being able to self‐test at home, unassisted, for COVID‐19. If self‐tests were available in Indonesia, >60% of respondents would use them if they felt it necessary and would undertake regular self‐testing for example weekly if recommended. Upon receiving a positive self‐test result, most respondents would communicate it (86.03%), request post‐test counselling (80.79%), self‐isolate (97.46%), and/or warn their close contacts (90.48%).ConclusionsThe use of rapid SARS‐CoV‐2 antigen detection tests for self‐testing appears acceptable to a majority of the Indonesian public, to learn whether they have COVID‐19. Self‐testing should be prioritised to complement to an over‐burdened healthcare system by helping the public, asymptomatic individuals included, become agents of change in epidemiological surveillance of SARS‐CoV‐2 in their communities.

Genetics Adviser: a protocol for a mixed-methods randomised controlled trial evaluating a digital platform for genetics service delivery

IntroductionThe high demand for genetic tests and limited supply of genetics professionals has created a need for alternative service delivery models. Digital tools are increasingly being used to support multiple...

Screening for Hepatitis B in partners and children of women positive for surface antigen, Burkina Faso.

ObjectiveTo evaluate the implementation of a screening strategy for the partners and children of pregnant women with hepatitis B virus (HBV) attending antenatal care.MethodsWe identified pregnant women positive for HBV surface antigen (HBsAg) at antenatal consultation in Ouagadougou, Burkina Faso. At post-test counselling, women were advised to disclose their HBV status to partners and to encourage their partner and children to be screened for HBsAg. We used multivariable logistic regression to explore factors associated with uptake of screening and HBsAg positivity among family members.FindingsOf 1000 HBsAg-positive women, 436/1000 partners and 215/1281 children were screened. HBsAg was detected in 55 (12.6%) partners and 24 (11.2%) children. After adjusting for confounders, uptake of screening was higher in partners who were married, who attended the woman’s first post-test consultation and to whom the woman had disclosed her HBV status. In children, HBsAg positivity was associated with being born before the introduction of infant hepatitis B vaccination in Burkina Faso (not significant in the multivariable analysis), having a mother positive for HBV e-antigen (adjusted OR: 8.57; 95% CI: 2.49–29.48) or having a mother with HBV DNA level ≥ 200 000 IU/mL (OR: 6.83; 95% CI: 1.61–29.00).ConclusionIn low-income countries, the antenatal consultation provides a cost-effective opportunity to identify HBV-infected household contacts and link them to care. Children born before the introduction of infant hepatitis B vaccination and whose mother has higher viral load or infectivity should be a priority for testing and linkage to care.

Stigma-directed services (Stig2Health) to improve 'linkage to care' for people living with HIV in rural Tanzania: study protocol for a nested pre-post implementation study within the Kilombero and Ulanga Antiretroviral Cohort.

Background: HIV-related stigma is a major barrier to the timely linkage and retention of patients in HIV care in sub-Saharan Africa, where most people living with HIV/AIDS reside. In this implementation study we aim to evaluate the effect of stigma-directed services on linkage to care and other health outcomes in newly diagnosed HIV-positive patients. Methods: In a nested project of the Kilombero and Ulanga Antiretroviral Cohort in rural Tanzania, we conduct a prospective observational pre-post study to assess the impact of a bundle of stigma-directed services for newly diagnosed HIV positive patients. Stigma-directed services, delivered by a lay person living with HIV, are i) post-test counseling, ii) post-test video-assisted teaching, iii) group support therapy and group health education, and iv) mobile health. Patients receiving stigma services (enrolled from 1 st February 2020 to 31 st August 2021) are compared to a historical control receiving the standard of care (enrolled from 1 st July 2017 to 1 st February 2019). The primary outcome is 'linkage to care'. Secondary endpoints are retention in care, viral suppression, death and clinical failure at 6-12 months (up to 31 st August 2022). Self-reported stigma and depression are assessed using the Berger Stigma scale and the PHQ-9 questionnaire, respectively. The sample size calculation was based on cohort data from 2018. Assuming a pre-intervention cohort of 511 newly diagnosed adults of whom 346 (68%) were in care and on antiretroviral treatment (ART) at 2 months, a 10% increase in linkage (from 70 to 80%), a two-sided type I error rate of 5%, and 90% power, 321 adults are required for the post-implementation group. Discussion: We expect that integration of stigma-directed services leads to an increase of proportions of patients in care and on ART. The findings will provide guidance on how to integrate stigma-directed services into routine care in rural sub-Saharan Africa.

Exploring Rare Disease Patient Attitudes and Beliefs regarding Genetic Testing: Implications for Person-Centered Care.

Most rare diseases are genetic in etiology and characterized by a ‘diagnostic odyssey’. Genomic advances have helped speed up the diagnosis for many rare disorders, opening new avenues for precision therapies. Little is known about patient attitudes, experiences, and beliefs about genetic testing for the rare disease congenital hypogonadotropic hypogonadism (CHH). Methods: We conducted six focus groups with patients with CHH (n = 58). Transcripts were coded by independent investigators and validated by external reviewers. Results: Major themes relating to pre-test experiences were ‘attitudes & beliefs’ (most frequently cited theme), which revealed altruism as a strong motivator for pursuing research testing and ‘information and support,’ which revealed a striking lack of pre-testing decisional support/genetic counseling. Major post-test themes included ‘return of results,’ revealing frustration with the lack of return of results and limited emotional support, and ‘family communication,’ describing challenging intrafamilial communication. Themes describing ethical concerns (i.e., privacy, use of samples) were least frequently noted and related to pre- and post-test experiences. Conclusions: Patients with CHH are highly motivated by altruism when pursuing testing but have significant unmet needs for pre-test decisional support and post-test counseling. It is regarded that patient values, beliefs and experiences can inform more person-centered approaches to genetic testing for rare diseases.

Participant experiences of genome sequencing for rare diseases in the 100,000 Genomes Project: a mixed methods study

In this mixed methods study, a survey and in-depth interviews were used to explore whether decision regret and the psychological impact of receiving genome sequencing (GS) results differed between parents and patients, and between those who received a genetic diagnosis and those who did not. Participants (n = 77) completed a survey that included the Decisional Regret Scale (DRS) and an adaptation of the Multidimensional Impact of Cancer Risk Assessment (MICRA) at least 12 months after consenting for GS for rare disease diagnosis in the 100,000 Genomes Project. Survey participants were invited to take part in an interview and 39 agreed; 12 with a diagnosis, 5 with variants of uncertain significance, and 19 with no pathogenic findings identified. Both survey and interview findings indicated that decision regret was low. DRS scores revealed no differences in levels of regret between parents and patients, or between those with a diagnosis and those without. Though MICRA scores indicated minimal evidence of negative psychological impacts of receiving GS results, subscale analysis revealed greater distress and uncertainty for parents compared to patients. Receiving a diagnosis was found not to influence MICRA scores, supporting interview findings of both positive and negative emotional and psychological impacts irrespective of a genetic diagnosis. Our findings have implications for policy and practice as GS is integrated into the UK and worldwide; notably, that expectation-setting is critical when offering GS, and that post-test counselling is important regardless of the GS result received, with parents perhaps needing additional emotional support.

A Scoping Review of Attitudes and Experiences with Pharmacogenomic Testing among Patients and the General Public: Implications for Patient Counseling.

The use of pharmacogenomic (PGx) tests is increasing, but there are not standard approaches to counseling patients on their implications or results. To inform approaches for patient counseling, we conducted a scoping review of published literature on patient experiences with PGx testing and performed a thematic analysis of qualitative and quantitative reports. A structured scoping review was conducted using Joanna Briggs Institute guidance. The search identified 37 articles (involving n = 6252 participants) published between 2010 and 2021 from a diverse range of populations and using a variety of study methodologies. Thematic analysis identified five themes (reasons for testing/perceived benefit, understanding of results, psychological response, impact of testing on patient/provider relationship, concerns about testing/perceived harm) and 22 subthemes. These results provide valuable context and potential areas of focus during patient counseling on PGx. Many of the knowledge gaps, misunderstandings, and concerns that participants identified could be mitigated by pre- and post-test counseling. More research is needed on patients’ PGx literacy needs, along with the development of a standardized, open-source patient education curriculum and the development of validated PGx literacy assessment tools.

HIV Surveillance and Research for Migrant Populations: Protocol Integrating Respondent-Driven Sampling, Case Finding, and Medicolegal Services for Venezuelans Living in Colombia.

BackgroundEpidemiologic research among migrant populations is limited by logistical, methodological, and ethical challenges, but it is necessary for informing public health and humanitarian programming.ObjectiveWe describe a methodology to estimate HIV prevalence among Venezuelan migrants in Colombia.MethodsRespondent-driven sampling, a nonprobability sampling method, was selected for attributes of reaching highly networked populations without sampling frames and analytic methods that permit estimation of population parameters. Respondent-driven sampling was modified to permit electronic referral of peers via SMS text messaging and WhatsApp. Participants complete sociobehavioral surveys and rapid HIV and syphilis screening tests with confirmatory testing. HIV treatment is not available for migrants who have entered Colombia through irregular pathways; thus, medicolegal services integrated into posttest counseling provide staff lawyers and legal assistance to participants diagnosed with HIV or syphilis for sustained access to treatment through the national health system. Case finding is integrated into respondent-driven sampling to allow partner referral. This study is implemented by a local community-based organization providing HIV support services and related legal services for Venezuelans in Colombia.ResultsData collection was launched in 4 cities in July and August 2021. As of November 2021, 3105 of the target 6100 participants were enrolled, with enrollment expected to end by February/March 2022.ConclusionsTailored methods that combine community-led efforts with innovations in sampling and linkage to care can aid in advancing health research for migrant and displaced populations. Worldwide trends in displacement and migration underscore the value of improved methods for translation to humanitarian and public health programming.International Registered Report Identifier (IRRID)DERR1-10.2196/36026

Preference and ability to perform blood-versus oral-fluid-based HIV self-testing in adolescents and young adults in Bangkok.

Introduction: Adolescents and young adults (AYA) have limited access to HIV screening tests despite the risk of acquiring HIV infection. This study aims to understand AYA preferences and their ability to perform HIV self-tests (HIVST).Methods: A cross-sectional study looked at AYA preferences when offered a choice between blood-based (INSTI®) and oral fluid-based (OraQuick®) HIVST. Adolescents and young adult participants between 18 and 24years-old who report inconsistent condom use or had a history of sexually transmitted diseases were enrolled. Participants were offered a choice between blood-based and/or oral fluid-based HIVSTs with explanations of the differences between two types. Then, written and short video instructions according to the chosen type were given before participants performed a test. The study seeks to understand test preference, ability to perform and interpret test results.Results: From March to April 2021, 87 AYA were enrolled with a median age of 20years (interquartile range (IQR) 18-22). Of the participants, 54 (62.1%) were men who have sex with men (MSM), 25 (28.7%) were cisgender men or women and 8 (9.2%) were transgender women (TGW). There were 37 (42.5%) first-time HIV testers and 32 (36.8%) HIV PrEP users. There were 57 participants (65.6%, 95% CI 54.6%-75.4%) that preferred blood-based HIVSTs. Reasons for preferring blood-based testing were the rapid results (77.2%) and higher accuracy (66.7%). The ability to perform and interpret HIVST results were 89.5% and 98% among INSTI users and 93.3% and 100.0% among OraQuick® users. None was HIV-positive. Moreover, 13.8% of the participants initiated same-day pre-exposure prophylaxis (PrEP).Conclusions: Thai AYA preferred blood-based over oral fluid-based HIVSTs. Most AYAs were able to perform the HIVSTs and interpret results. Supervision and post-test counselling of HIVSTs should be implemented to ensure AYA gain benefits from HIVSTs.

EP303: A tale of two tests: A PGT-M and expanded carrier screening clinical experience study

The American College of Medical Genetics’ policy statement endorses offering expanded carrier screening (ECS) to all couples considering pregnancy and those who are pregnant, across all ethnicity groups while stressing the importance of pre- and post-test counseling. For at-risk couples in which both partners are carriers of the same autosomal recessive (AR) genetic condition or in which the female partner is a carrier of an X-linked (XL) condition, results are actionable, with additional testing offered before, during or after a pregnancy.

ADAPTIVE MANAGEMENT VCT PADA WANITA PEKERJA SEKS DI PUSKESMAS KABUPATEN PEMALANG DALAM SAAT PANDEMI COVID-19

The Covid-19 pandemic has disrupted the voluntary counseling and testing (VCT) program for female sex workers (WPS) as evidenced by a decrease in the use of VCT in FSW. Therefore, the existence of COVID-19 requires adaptation to program sustainability (adaptive management). The purpose of this study was to find out adaptive management VCT in female sex workers at the Pemalang District Health Center in the Covid-19 pandemic situation. This type of qualitative research uses the focus group discussion (FGD) method to collect data related to the adaptive VCT on female sex workers at the primary health care in the Covid-19 pandemic situation. Participants involved in the FGDs were stakeholders in the management of the VCT HIV program for female sex workers. Data analysis using content analysis method (content analysis). The results showed that the adaptive carried out is not doing mobile VCT, VCT at the primary health care with health protocols, delivering test results via SMS, not doing post-test counseling. Challenges and obstacles in adapting to VCT at the primary health care are the interest of women sex workers to do VCT at the primary health care still low, the counseling provided is limited, women sex workers do not understand the test results, and the risk of messages being not opened. Design improvements based on ideas and ideas are through health promotion with social media, some from the community of female sex workers being role models, owners (pimps) requiring regular VCT FSW at the primary health care, running mobile VCT (6 months) with a health protocol, counselors must be able to provide information that is easy to understand, clear and concise, can use the telephone to convey test results.

Seroprevalence of HIV-1 and HIV-2 Infections at an ICTC in A Tertiary Care Hospital in Pondicherry

Purpose of the study: To estimate the prevalence of HIV 1 and HIV 2 infection in patients attending the tertiary care setup. Routine screening for HIV infection of 10000 samples were carried out between July 2017-June 2018. All patients were given a pre-test counselling and filled up the Consent form provided by NACO. The samples were subjected to the NACO provided Comb Aids RS Advantage kit and all positives were tested using 2 other kits Meriscreen HIV 1-2 and Tridot Test for differentiation. The data thus obtained were charted in Excel and the prevalence were determined. A Post-test counselling was given for all patients and the results were disclosed following the protocol provided by NACO. Of the 10000 samples, 82 (0.82%) samples were reactive for HIV. In the 82 reactive samples, 78 (95.12%) samples were reactive for HIV- 1 antibodies and 4 (4.8%) samples were reactive for HIV-2 antibodies. Among the 82 reactive clients, 53 clients were male and 29 clients were female.

The Feasibility of Implementing Mainstream Germline Genetic Testing in Routine Cancer Care-A Systematic Review.

Simple SummaryGermline genetic testing for patients with cancer can have important implications for treatment, preventive options, and for family members. In a mainstream genetic testing pathway, pre-test counseling is performed by non-genetic healthcare professionals, thereby making genetic testing more accessible to all patients who might benefit from it. These mainstream genetic testing pathways are being implemented in different hospitals around the world, and for different cancer types. It is important to evaluate how a mainstream genetic testing pathway can be made sustainable and if quality of genetic care is maintained. We show in this systematic review that it is feasible to incorporate a mainstream genetic testing pathway into routine cancer care while maintaining quality of care. A training procedure for non-genetic healthcare professionals and a close collaboration between genetics and other clinical departments are highly recommended to ensure sustainability.Background: Non-genetic healthcare professionals can provide pre-test counseling and order germline genetic tests themselves, which is called mainstream genetic testing. In this systematic review, we determined whether mainstream genetic testing was feasible in daily practice while maintaining quality of genetic care. Methods: PubMed, Embase, CINAHL, and PsychINFO were searched for articles describing mainstream genetic testing initiatives in cancer care. Results: Seventeen articles, reporting on 15 studies, met the inclusion criteria. Non-genetic healthcare professionals concluded that mainstream genetic testing was possible within the timeframe of a routine consultation. In 14 studies, non-genetic healthcare professionals completed some form of training about genetics. When referral was coordinated by a genetics team, the majority of patients carrying a pathogenic variant were seen for post-test counseling by genetic healthcare professionals. The number of days between cancer diagnosis and test result disclosure was always lower in the mainstream genetic testing pathway than in the standard genetic testing pathway (e.g., pre-test counseling at genetics department). Conclusions: Mainstream genetic testing seems feasible in daily practice with no insurmountable barriers. A structured pathway with a training procedure is desirable, as well as a close collaboration between genetics and other clinical departments.

Implementation of a campus-based and peer-delivered HIV self-testing intervention to improve the uptake of HIV testing services among university students in Zimbabwe: the SAYS initiative

BackgroundThe uptake of HIV testing services among adolescents and young adults in Zimbabwe is low due to stigma associated with the risk of mental and social harm. The WHO recommends HIV self-testing (HIVST) as an innovative approach to improve access to HIV testing for this hard-to-reach populations. This study describes the development and implementation of a coordinated multifaceted and multidisciplinary campus-based approach to improve the uptake of HIV testing among university students in Zimbabwe.MethodsWe utilized both quantitative and qualitative methods guided by the Exploration, Preparation, Implementation, and Sustainment Framework. A formative survey, in-depth interviews, and a scoping review were conducted as part of the situation analysis. Implementers (peer educators and health workers) were trained and community dialogue sessions were conducted to ascertain the determinants (enablers and barriers) influencing both the inner and outer contexts. Self-test kits were disbursed over 6 months before a summative evaluation survey was conducted. Qualitative data were analyzed thematically while the chi-squared test was used to analyze quantitative data.ResultsThe formative evaluation showed that 66% of students intended to test and 44% of the enrolled students collected HIVST test kits. Giving comprehensive and tailored information about the intervention was imperative to dispel the initial skepticism among students. Youth-friendly and language-specific packaging of program materials accommodated the students. Despite the high acceptability of the HIVST intervention, post-test services were poorly utilized due to the small and isolated nature of the university community. Implementers recommended that the students seek post-test services off-site to ensure that those with reactive results are linked to treatment and care.ConclusionsPeer-delivered HIVST using trained personnel was acceptable among adolescents and young adults offered the intervention at a campus setting. HIVST could increase the uptake of HIV testing for this population given the stigma associated with facility-based HTS and the need for routine HIV testing for this age group who may not otherwise test. An off-site post-test counseling option is likely to improve the implementation of a campus-based HIVST and close the linkage to treatment and care gap.

Niet-invasieve prenatale testen: detecteren van numerieke afwijkingen van geslachtschromosomen. Is het wenselijk om deze informatie mee te delen aan zwangere vrouwen?

Non-invasive prenatal screening: detection of sex chromosomal aneuploidies. Desirability of reporting these findings to pregnant women On 30 April 2021, the Belgian Advisory Committee on Bioethics issued opinion No. 76 regarding the desirability to report sex chromosomal aneuploidies (SCAs) detected by non-invasive prenatal testing (NIPT). Debate is ongoing in the medical community as to whether it is appropriate to report an SCA of the fetus to the pregnant woman when this abnormality is detected by a genome-wide NIPT. This question presupposes that SCAs should be screened for in the first place. This does not necessarily have to be the case, neither technically nor ethically: if a targeted genome screening was to be conducted instead of the nowadays preferred genome-wide approach, these SCAs would not be automatically identified. The Committee argues that there are insufficient reasons for including SCAs in standard prenatal NIPT screening and reporting. Good quality pre- and post-test counseling is paramount to make sure that expectant parents are making decisions they feel comfortable with down the line. This requires manageable information about the general aim, scope and method of NIPT screening, the reliability and validity of the test, the need to perform invasive prenatal testing in case of positive results, clarity on what the results may imply, and information that extends beyond medical descriptions of the conditions screened for. The Committee stresses that this condition is, at this moment, insufficiently met.

Abstract P3-14-20: Racial and ethnic groups have different clustering of variants of uncertain significance

Abstract Background:Racial/ethnic disparities in minority access to genetic testing have perpetuated a higher likelihood of identifying an uncertain result in minority populations. Methods:Patient data was obtained from the Informed Genetics Annotated Patient Registry (iGAP), an IRB-approved multi-center longitudinal, observational study designed to capture genetic and genomic test results and their utilization and impact on treatment practices and outcomes. Patients self-declare race/ethnicity. Genetic panels contained between 1 and 148 genes and variant classification was determined by the performing genetic testing companies and reported as negative, variant of uncertain significance (VUS), likely-pathogenic, or pathogenic. Descriptive statistics were used to assess and compare data of these populations and germline genetic testing results indicating variant of uncertain significance. Results:Hispanic and African American patients had approximately twice as many uncertain results (VUS) compared to Caucasian patients for all cancer genes examined. Conclusions:Variant adjudication has disproportionately sorted out more uncertain results in Caucasians than Hispanics and African Americans. This leads to greater uncertainty in post-test counseling for these groups and should be a focus for lab testing companies going forward. Citation Format: Peter Beitsch, Chloe Wernecke, Kelly Bontempo, Brenna Bentley, Maureen Graham, Pat Whitworth, Rakesh Patel. Racial and ethnic groups have different clustering of variants of uncertain significance [abstract]. In: Proceedings of the 2021 San Antonio Breast Cancer Symposium; 2021 Dec 7-10; San Antonio, TX. Philadelphia (PA): AACR; Cancer Res 2022;82(4 Suppl):Abstract nr P3-14-20.

Evaluation of a mainstream genetic testing program for women with ovarian or breast cancer.

Mainstream genetic testing refers to genetic testing arranged by a patient's treating specialist. The aim of this study was to retrospectively review a Sydney-based ovarian cancer mainstream genetic testing program. A Cancer Genetics Service (CGS)-supported mainstream genetic testing program was commenced in 2015. The CGS provided training, paperwork and ongoing and adaptable advice regarding appropriate genes for testing and interpretation of results. Written and electronic medical records were reviewed until August 2019 to assess patient and family history characteristics, genetic testing eligibility, results and posttest management for women who had testing coordinated via mainstreaming or by the CGS. Genetic testing was arranged for 289 women with ovarian cancer. Prior to 2017, 44% of genetic tests were mainstreamed, compared with 76% of tests from 2017 onwards. CGS was more likely to arrange testing for women with a strong family history of cancer and nonserous pathology. Germline pathogenic variants were detected in 13.7% (19/138) of women who had mainstream testing and 20.3% (14/69) of women tested by the CGS. Referral for posttest counseling occurred for pathogenic variant carriers identified through mainstreaming. This study demonstrated successful uptake of a mainstream ovarian cancer genetic testing program by medical oncologists, as evidenced by higher proportion and absolute numbers of eligible ovarian cancer patients accessing genetic testing through this pathway over time. The genetic testing criteria were appropriately assessed by oncologists and posttest referral occurred where required.

High Incidence of COL4A Genetic Variants Among a Cohort of Children With Steroid-Resistant Nephrotic Syndrome From Eastern India

High Incidence of COL4A Genetic Variants Among a Cohort of Children With Steroid-Resistant Nephrotic Syndrome From Eastern India