Genetic Carrier Screening Research Articles

Development and use of the Australian reproductive genetic carrier screening decision aid.

Reproductive genetic carrier screening (RGCS) may be offered to all individuals and couples, regardless of family history or ethnicity. "Mackenzie's Mission" (MM) is an Australian RGCS pilot study, evaluating the offer of couple-based screening for ~1300 genes associated with around 750 autosomal and X-linked recessive childhood-onset conditions. Each member of the couple makes an individual decision about RGCS and provides consent. We developed a decision aid (RGCS-DA) to support informed decision-making in MM, suitable for couples who were either non-pregnant or in early pregnancy. A Delphi approach invited experts to review values statements related to various concepts of RGCS. Three review rounds were completed, seeking consensus for relevance and clarity of statements, incorporating recommended modifications in subsequent iterations. The final RGCS-DA contains 14 statements that achieved Delphi consensus plus the attitude scale of the measure of informed choice. This was then evaluated in cognitive talk aloud interviews with potential users to assess face and content validity. Minimal wording changes were required at this stage. After this process, the RGCS-DA was piloted with 15 couples participating in MM who were then interviewed about their decision-making. The RGCS-DA prompted discussion within couples and facilitated in depth consideration of screening. There was reassurance when values aligned and a sense of shared decision-making within the couple. This RGCS-DA may become a very useful tool in supporting couples' decision making and contribute to RGCS being feasible for scaled-up implementation.

Counseling for personal health implications identified during reproductive genetic carrier screening

Preconception and prenatal carrier screening is designed to provide reproductive risk information, but carriers for some autosomal recessive or X-linked conditions also have personal health risks. This study investigated the prevalence of and inclusion of personal health implications in pre- and post-test counseling. Twelve genetic conditions with personal health risks for carriers includedon carrier screening panels but not otherwise screened routinely were identified (e.g., Gaucher disease with Parkinson's disease risk). A retrospective review was performed of patients with a positive carrier screen for one of these conditions at our center from 2012 to 2019. Of 6147 individuals that had carrier screening for one of the twelve conditions, 96 (1.56%) did not report a known family history and screened positive for one of the conditions. Testing was ordered largely by reproductive endocrinologists (51.0%) and genetic counselors (35.4%). Most individuals did not receive pre- (96.8%) or post-test (64.6%) counseling about personal health risks. Post-test counseling was performed principally by genetic counselors (97.1%). For carriers of conditions with guidelines for specialist referral, most individuals (75.9%) were referred. Expanded genetic carrier screening increasingly identifies individuals with personal health implications, but patients are frequently not counseled before or after testing. These findings stress the importance of developing guidelines for practitioners about expanded carrier screening counseling and follow-up.

CLINICAL IMPLICATIONS OF AN EXPANDED PAN-ETHNIC CARRIER SCREENING PANEL

To describe what proportion of patients complete the recommended expanded carrier screening prior to initiating fertility treatment and what proportion of those patients had actionable screening results. This was a retrospective cohort study of all new patient visits from January to April 2016 where at least one partner underwent expanded pan-ethnic genetic carrier screening at our university affiliated center. The primary outcome of this study was the number of couples who completed screening prior to initiating fertility treatment. The secondary outcome was the number of actionable genetic disorders screened positive for individual patients and couples. A total of 1,320 new patient visits were screened for inclusion, of which 911 couples pursued fertility treatment at our center. Of the 911 couples, 648 (71.1%) couples completed screening where at least one partner was screened, and 263 (28.9%) couples declined or were not screened. Of those screened, 317 (49.0%) couples were screened together on the same day. For couples who were not screened together, the female partner was screened an average of 35.7 ± 131 days before their partner underwent screening. Of the 612 female partners who completed screening, 402 (65.7%) females screened positive for a genetic disorder. There were 31 couples where both partners screened positive for at least one actionable genetic disorder. Of these 31 couples, 12 pursued in-vitro fertilization (IVF) only, eight pursued IVF with preimplantation genetic testing for monogenic disorder, three pursued intrauterine insemination, two conceived spontaneously, one used an egg donor, one pursued ovulation induction, and six did not return for treatment at our center. Of the 457 females who became pregnant, 53 (11.6%) couples did not complete any screening before pregnancy. The findings of this descriptive study suggest that the majority of couples seeking fertility treatment completed the expanded pan-ethnic genetic carrier screening and many of these couples are screened before becoming pregnant, indicating that many couples are interested in knowing their risk of having a child with a genetic disorder. This expanded pan-ethnic carrier screening has a high positivity rate thus providing valuable information to help couples decide what type of fertility treatment to pursue.

P–573 PGT-M for two or more disease carrier patients diagnosed after whole exome sequencing

Study questionCan whole exome sequencing (WES) before PGT-M identify previously unknown mutations for consanguineous couples having an increased risk of carrying more than one genetic disease?Summary answerWES has been successfully applied in combination with PGT-M by identifying new pathogenic mutations in addition to known gene mutations, extending the scope of PGT-M.What is known alreadyMost couples ignore their risk of being a carrier of an inherited genetic disease until they have an affected child. Rare, atypical, and undiagnosed autosomal-recessive disorders frequently occur in the offspring of consanguineous couples. Routine single gene diagnostic tests fail to detect any possible gene defects other than the clinically apparent one. Prospective WES or genetic carrier screening testing of consanguineous couples could identify couples who both are carriers of autosomal recessive diseases and thus encourage them to make informed reproductive decisions. Screening tests using NGS technology simultaneously sequence exons and exon-intron boundaries to determine disease carrier status.Study design, size, durationBetween January 2017 and October 2020, a total of 206 PGT-M couples applied to Istanbul Memorial Hospital ART Center. Of these couples, multigene PGT-M workups were carried for twelve couples who were carriers of more than one inherited disease. Eight couples were found to be carriers for two different diseases and four couples were carrying three diseases. All biopsies were performed at the blastocyst stage.Participants/materials, setting, methodsFor the 12 couples with multigene PGT-M workups the average female age was 31.0 ± 6.2. Nine of them initiated an ART cycle and the mean number of cumulus-oocyte complexes, metaphaseII oocytes, biopsied blastocysts and transferrable PGT-M embryos were 15 ± 6.9, 13.3 ± 6.3, 5.9 ± 2.0 and 2.9 ± 1.9, respectively. PGT-A was routinely performed for all couples with transferrable PGT-M tested embryos except one couple who refused PGT-A.Main results and the role of chanceA total of 28 different gene workups were completed for 26 genes. The inheritance mode of the 26 conditions was as follows: 20 autosomal recessive, four autosomal dominant and two X-linked recessive. Out of 12 couples, 9 of them initiated an ART cycle and transferrable embryos were found after PGT-M followed by PGT-A. Eight women had frozen embryo transfers resulting in five healthy babies (3 singletons and 1 twin), two pregnancies still ongoing and one biochemical miscarriage at the time of data collection. The couple who declined PGT-A testing prior to their frozen embryo transfer had anegative bhCG test. Three couples completed their workups but postponed their ART and PGT-M cycle due to Covid–19 pandemic.Limitations, reasons for cautionThe probability of finding at least one transferrable embryo after PGT-M is influenced by the inheritance mode of the disease. Late-onset diseases presumed to be caused by variants of unknown significance and polygenic diseases that are possibly influenced by environmental factors were not included in this study.Wider implications of the findings: With decreasing costs and improved availability of WES and genetic carrier screening panels, couples, especially consanguineous couples, who were previously shown to have one inherited disease may be offered to be screened for additional undiagnosed inherited diseases that may pose a threat for their offspring.Trial registration numberNot applicable

The Core Outcome DEvelopment for Carrier Screening (CODECS) study: protocol for development of a core outcome set

BackgroundReproductive genetic carrier screening is a type of genetic testing available to those planning a pregnancy, or during their first trimester, to understand their risk of having a child with a severe genetic condition. There is a lack of consensus for ‘what to measure’ in studies on this intervention, leading to heterogeneity in choice of outcomes and methods of measurement. Such outcome heterogeneity has implications for the quality and comparability of these studies and has led to a lack of robust research evidence in the literature to inform policy and decision-making around the offer of this screening. As reproductive genetic carrier screening becomes increasingly accessible within the general population, it is timely to investigate the outcomes of this intervention.ObjectivesThe development of a core outcome set is an established methodology to address issues with outcome heterogeneity in research. We aim to develop a core outcome set for reproductive genetic carrier screening to clarify and standardise outcomes for research and practice.MethodsIn accordance with guidance from the COMET (Core Outcome Measures in Effectiveness Trials) Initiative, this study will consist of five steps: (i) a systematic review of quantitative studies, using narrative synthesis to identify previously reported outcomes, their definitions, and methods of measurement; (ii) a systematic review of qualitative studies using content analysis to identify excerpts related to patient experience and perspectives that can be interpreted as outcomes; (iii) semi-structured focus groups and interviews with patients who have undertaken reproductive genetic carrier screening to identify outcomes of importance to them; (iv) Delphi survey of key stakeholders, including patients, clinicians, and researchers, to refine and prioritise the list of outcomes generated from the previous steps; and (v) a virtual consensus meeting with a purposive sample of key stakeholders to finalise the core outcome set for reporting.DiscussionThis protocol outlines the core outcome set development process and its novel application in the setting of genetic testing. This core outcome set will support the standardisation of outcome reporting in reproductive carrier screening research and contribute to an evolving literature on outcomes to evaluate genetic testing and genetic counselling as health interventions.COMET core outcome set registrationhttp://www.comet-initiative.org/Studies/Details/1381.

A More Universal Approach to Comprehensive Analysis of Thalassemia Alleles (CATSA)

The aim of the study was to assess the clinical utility of a third-generation sequencing (TGS) approach termed comprehensive analysis of thalassemia alleles (CATSA) for identifying both α and β thalassemia genetic carrier status. Prospective blood samples (n=1759) with abnormal hemoglobin parameters were screened for pathogenic thalassemia variants by CATSA on the PacBio TGS platform. In 1159 individuals, a total of 1317 pathogenic thalassemia variants were identified and confirmed by independent PCR-based tests. Of the total thalassemia variants detected, the α-variant --SEA (35.4%) and β-variant c.126_129delCTTT (15%) were the most common. CATSA was also able to detect three types of rare HBA structural variants as well as five rare HBA2, three HBA1, and 10 HBB single-nucleotide variations/insertions and deletions. Compared with standard thalassemia variant PCR panel testing, CATSA identified all panel variants present, with no false-negative results. Carrier assignment was improved through identification of rare variants missed by the panel test. On the basis of allelic coverage, reliability, and accuracy, TGS with long-range PCR presents a comprehensive approach with the potential to provide a universal solution for thalassemia genetic carrier screening. It is proposed that CATSA has immediate clinical utility as an effective carrier screening approach for at-risk couples.

Reproductive carrier screening: responding to the eugenics critique

Reproductive genetic carrier screening (RCS), when offered to anyone regardless of their family history or ancestry, has been subject to the critique that it is a form of eugenics. Eugenics...

Disparities among infertility patients regarding genetic carrier screening, sex selection, and gene editing.

The purpose of this study is to evaluate the perspectives of infertility patients regarding genetic carrier screening, embryo sex selection, embryo research, and gene editing. An anonymous 32-question survey was distributed electronically to all patients who seen at a single academic fertility center for at least one visit between June 2018 and September 2019. Survey questions evaluated patient perspectives on genetic carrier screening, embryo sex selection, embryo research, and gene editing. There were 1460 survey responses (32.0% response rate). There were significant differences in the proportion of respondents receiving genetic carrier screening between racial groups, 73.1% of White, 45.5% of Black, 49.4% of Hispanic, and 62.8% of Asian respondents. The likelihood of having genetic carrier screening was also significantly influenced by respondent income, insurance status, and religion. Religion significantly influenced the acceptance of embryonic research and embryonic sex selection. While only 8.9% felt that genetically modifying embryos for physical traits should be allowed, 74.1% felt that genetic modification to correct disease should be allowed. Racial, religious, and socioeconomic factors significantly impacted respondents' likelihood to have genetic carrier screening and views on embryo sex selection, embryo research, and gene editing. These findings highlight the importance of tailoring genetic counseling to the individual, acknowledging individual and cultural differences in agreement with genetic testing and emerging genetic therapies.

Genetic Carrier Screening for Cystic Fibrosis, Fragile X Syndrome, Hemoglobinopathies, and Spinal Muscular Atrophy


 People generally describe wanting access to carrier screening because knowing about the risk of passing along a genetic condition is considered important and supportive of their desires to be prepared. In the context of expanded carrier screening programs, this could mean that an increased number of people would want to access these programs.
 Supporting people who are considering carrier screening can be challenging and is likely to be more involved than simply sharing high-level descriptive information about testing details and potential outcomes. Descriptive information is important to help people understand the screening process and the types of results that could emerge from testing; however, programs might be more supportive of informed decision-making if the providers take a proactive role and are open to facilitating speculative conversations about potential ramifications in people’s actual lives. This is challenging given the expressed desire by health care providers, clinical geneticists in particular, to provide “neutral information” that patients would not experience as prescriptive.
 Given the challenge of supporting people making decisions about whether or not to pursue carrier screening, and the likely increase in people who would consider carrier screening if targeted programs were expanded to population-level screening, it is important to ensure that health care providers are both aware of jurisdictional carrier screening programs and competent in what carrier screening can offer their patients in terms of clinical actionability. Although this is particularly true for general practitioners who are often the primary point of contact with the health care system for their patients, it is also important for people who work in family planning clinics and women’s health clinics.
 Having the option to engage with carrier screening at the preconception stage was universally preferred by participants across the included studies. Compared with prenatal carrier screening, preconception carrier screening was seen as providing prospective parents with more reproductive options. Health care providers were concerned that offering carrier screening during pregnancy might lead pregnant people and their partners to confuse it with other prenatal testing which would limit people’s ability to be truly informed before deciding whether or not to pursue screening. However, if offered as a prenatal option, most people consider it important to do so as early as possible because it could be paired with other prenatal tests. Although not referred to specifically by any of the included studies, we note that offering carrier screening prenatally rather than at preconception, could place the responsibility to make the decision on cisgender women and non-binary or transgender people with uteruses.
 Sequentially designed carrier screening programs were the most common across the included studies; however, people moving through programs with this design found the interim period between receiving their positive carrier results and receiving their partners’ results difficult. This was particularly true for people who were already pregnant because this interim period forced them to reimagine both their relationship with the fetus and the future they had imagined with that child. Of course, this reimagining might be necessary if both partners’ screening results came back positive for the condition in question, but to stagger the return of the results could put undue anxiety on potential parents.
 Carrier screening will not affect everyone in the same way, and reproductive decision-making will still be complex and difficult. As such, the opportunity to engage with genetic counsellors on reproductive options following positive carrier status result is considered valuable.

Impact of Pan-Ethnic Expanded Carrier Screening in Improving Population Health Outcomes: Proceedings from a Multi-Stakeholder Virtual Roundtable Summit, June 25, 2020.

Impact of Pan-Ethnic Expanded Carrier Screening in Improving Population Health Outcomes: Proceedings from a Multi-Stakeholder Virtual Roundtable Summit, June 25, 2020.

Ethics of Reproductive Genetic Carrier Screening: From the Clinic to the Population.

Reproductive genetic carrier screening (RCS) is increasingly being offered more widely, including to people with no family history or otherwise elevated chance of having a baby with a genetic condition. There are valid reasons to reject a prevention-focused public health ethics approach to such screening programs. Rejecting the prevention paradigm in this context has led to an emphasis on more individually-focused values of freedom of choice and fostering reproductive autonomy in RCS. We argue, however, that population-wide RCS has sufficient features in common with other public health screening programs that it becomes important also to attend to its public health implications. Not doing so constitutes a failure to address the social conditions that significantly affect people’s capacity to exercise their reproductive autonomy. We discuss how a public health ethics approach to RCS is broader in focus than prevention. We also show that additional values inherent to ethical public health—such as equity and solidarity—are essential to underpin and inform the aims and implementation of reproductive carrier screening programs.

Health practitioners' perceptions of the barriers and enablers to the implementation of reproductive genetic carrier screening: A systematic review.

BackgroundAs interest in reproductive genetic carrier screening rises, with increased availability, the role of healthcare practitioners is central in guiding uptake aligned with a couples' values and beliefs. Therefore, practitioners' views on implementation are critical to the success of any reproductive genetic carrier screening programme.AimTo explore healthcare practitioners' perceptions of the barriers and enablers to implementation.Materials & MethodsWe undertook a systematic review of the literature searching seven databases using health practitioner, screening and implementation terms returning 490 articles.ResultsScreening led to the inclusion of 26 articles for full‐text review. We found three interconnected themes relating to reproductive genetic carrier screening: (i) use and impact, (ii) practitioners' beliefs and expectations and (iii) resources.DiscussionBarriers and enablers to implementation were present within each theme and grouping these determinants by (a) community for example lack of public interest, (b) practitioner for example lack of practitioner time and (c) organisation for example lack of effective metrics, reveals a preponderance of practitioner barriers and organisational enablers. Linking barriers with potential enablers leaves several barriers unresolved (e.g., costs for couples) implying additional interventions may be required.ConclusionFuture research should draw on the findings from this study to develop and test strategies to facilitate appropriate offering of reproductive genetic carrier screening by healthcare practitioners.

Genetic carrier screening for disorders included in newborn screening in the Saudi population

Background: Inborn errors of metabolism (IEM) are prevalent autosomal recessive disorders in Saudi Arabia. Socio-economic factors, such as consanguineous marriages, play a role in the high rate of diseases. The government of Saudi Arabia created a newborn screening program (NBS) for the most prevalent disorders to facilitate early intervention and the prevention of severe complications. The study aimed to determine the carried pathogenic allele of the diseases included in the NBS and the most frequently carried phenotype in the Saudi population. Methodology: We performed targeted genetic screening for the genes associated with the IEM in the NBS. We used the results of the whole exome sequencing of 1,314 affected and unaffected individuals from 650 families. The results constitute the King Abdullah International Medical Research Center Genomic Database. Results: According to the data set, four diseases occurred most frequently in the Saudi population: adrenal hyperplasia, propionic acidemia, phenylketonuria, and maple syrup urine disease. In total, 12 pathogenic variants occurred frequently. Conclusion: This study generated an updated list of the most pathogenic variants in the Saudi population, based on the National Guard Hospital dataset. Additional research with larger data sets from the different regions will provide valuable information about the allele distribution in the Saudi population, creating a carrier screening program.

Systematic Review of Outcomes in Studies of Reproductive Genetic Carrier Screening: Towards Development of a Core Outcome Set

Purpose: Current practice recommendations support the widespread implementation of reproductive genetic carrier screening (RGCS). These consensus-based recommendations highlight a research gap, with findings from current studies being insufficient to meet the standard required for more rigorous evidence-based recommendations. This systematic review assessed methodological aspects of studies on RGCS to inform the need for a core outcome set. Methods: We conducted a systematic search to identify peer-reviewed published studies offering population-based RGCS. Study designs, outcomes, and measurement methods were extracted. A narrative synthesis was conducting using an existing outcome taxonomy and criteria used in the evaluation of genetic screening programs as frameworks. Results: Sixty-five publications were included. We extracted 120 outcomes representing 24 outcome domains. Heterogeneity in outcome selection, measurement methods and time points of assessment was extensive. Quality appraisal raised concerns for bias. We found that reported outcomes had limited applicability to criteria used to evaluate genetic screening programs. Conclusions: Despite a large body of literature, diverse approaches to research have limited the conclusions that can be cumulatively drawn from this body of evidence. Consensus regarding meaningful outcomes for evaluation of RGCS would be valuable first step in working towards evidence-based practice recommendations, supporting the development of a core outcome set. Funding: This study is supported by the University of Technology Sydney and Graduate School of Health in the form of the Australian Research Training Program Fee Waiver Scholarship and Research Excellence Scholarship. Declaration of Interest: The authors declare no conflicts of interest.

Expanded Carrier Screening in Chinese Population - A Survey on Views and Acceptance of Pregnant and Non-Pregnant Women.

ObjectiveRecessive genetic diseases impose physical and psychological impacts to both newborns and parents who may not be aware of being carriers. Expanded carrier screening (ECS) allows screening for multiple genetic conditions at the same time. Whether or not such non-targeted panethnic approach of genetic carrier screening should replace the conventional targeted approach remains controversial. There is limited data on view and acceptance of ECS in general population, as well as the optimal timing of offering ECS to women. This study assesses views and acceptance of ECS in both pregnant women and non-pregnant women seeking fertility counseling or checkup and their reasons for accepting or declining ECS.Materials and methodsThis is a questionnaire survey with ECS information in the form of pamphlets distributed from December 2016 to end of 2018. Women were recruited from the antenatal clinics and the assisted reproductive unit at the Department of Obstetrics and Gynaecology, Queen Mary Hospital and the prepregnancy counseling clinic at the Family Planning Association of Hong Kong.ResultsA total of 923 women were recruited: 623 pregnant women and 300 non-pregnant women. There were significantly more non-pregnant women accepting ECS compared to pregnant women (70.7% vs. 61.2%). Eight hundred and sixty-eight (94%) women perceived ECS as at least as effective as or superior to traditional targeted screening. Significantly more pregnant women have heard about ECS compared with non-pregnant women (42.4% vs. 32.3%, P = 0.0197). Majority of women showed lack of understanding about ECS despite reading pamphlets that were given to them prior to filling in the questionnaires. Cost of ECS was a major reason for declining ECS, 28% (n = 256). Significantly more pregnant women worried about anxiety caused by ECS compared with the non-pregnant group (21.1% vs. 7.4%, P = 0.0006).ConclusionOur study demonstrates that expanded carrier screening was perceived as a better screening by most women. Prepregnancy ECS maybe a better approach than ECS during pregnancy, as it allows more reproductive options and may cause less anxiety. Nevertheless, implementation of universal panethnic ECS will need more patient education, ways to reduce anxiety, and consensus on optimal timing in offering ECS.

Propionic acidemia identified in twin siblings conceived by in vitro fertilization (IVF) with parents who were unknown carriers of a PCCA mutation

BackgroundPropionic acidemia (PA) is a severe monogenic disorder characterized by a deficiency of the mitochondrial protein propionyl-CoA carboxylase (PCC) enzyme, which is caused by mutations in the PCCA or PCCB gene. Preconception carrier screening could provide couples with meaningful information for their reproductive options; however, it is not widely performed in China.Case presentationThis report describes a case of dizygotic twin siblings conceived by in vitro fertilization (IVF) and diagnosed with propionic acidemia (PA). Their parents had no history of PA. Tandem mass spectrometry and urine gas chromatography/mass spectrometry (GC/MS) of the twin siblings revealed markedly elevated propionyl carnitine (C3), C3/C2, and 3-hydroxypropionate in the plasma and urine. Whole-exome sequencing was performed for the twin siblings. A homozygous missense mutation, c.2002G > A (p.Gly668Arg) in PCCA, was identified in the twin siblings. Sanger sequencing confirmed the homozygous mutation in the twin siblings and identified their parents as heterozygous carriers of the c.2002G > A mutation in PCCA. Both neonates in this case died. This is an emotionally and financially devastating outcome that could have been avoided with genetic carrier screening before conception. If couples are screened before IVF and found to be silent carriers, then reproductive options (such as preimplantation genetic diagnosis or prenatal diagnosis) can be offered to achieve a healthy newborn.ConclusionThis case is a reminder to infertile couples seeking IVF that it is beneficial to clarify whether they are silent carriers before undergoing IVF.

Preferences of Italian patients for return of secondary findings from clinical genome/exome sequencing.

Exome/genome sequencing (ES/GS) is increasingly becoming routine in clinical genetic diagnosis, yet issues regarding how to disclose and manage secondary findings (SFs) remain to be addressed, and limited evidence is available on patients' preferences. We carried out semi-structured interviews with 307 individuals undergoing clinical genetic testing to explore their preferences for return of SFs in the hypothetical scenario that their test would be performed using ES/GS. Participants were 254 females (82.7%) and 53 males (17.3%), aged 18-86years; 73.9% (81.1% of those with lower education levels) reported no prior knowledge of ES/GS. Prior knowledge of ES/GS was more common among patients tested for Mendelian conditions (34.5%), compared to those undergoing cancer genetic testing (22.3%) or carrier screening (7.4%). Despite this reported lack of knowledge, most participants (213, 69.6%) stated they would prefer to be informed of all possible results. Reasons in favor of disclosure included wanting to be aware of any risks (168; 83.6%) and to help relatives (23; 11.4%), but also hope that preventive measures might become available in the future (10, 5%). Conversely, potential negative impact on quality of life was the commonest motivation against disclosure. Among 179 participants seen for cancer genetic counseling who were interviewed again after test disclosure, 81.9% had not heard about ES/GS in the meantime; however, the proportion of participants opting for disclosure of any variants was lower (116; 64.8%), with 36 (20.1%) changing opinion compared to the first interview. Based on these findings, we conclude that genetic counseling for ES/GS should involve enhanced education and decision-making support to enable informed consent to SFs disclosure.

Социологические аспекты генетического скрининга на носительство вариантов, вызывающих развитие аутосомно-рецессивных заболеваний

Генетический скрининг на носительство вариантов, вызывающих развитие аутосомно-рецессивных заболеваний является важным звеном профилактики наследственных заболеваний на этапе планирования семьи. Пациентам поликлиники НОМТЦ МГТУ им. Н.Э. Баумана в возрасте 18-49 лет (женщины) и от 18 лет (мужчины) было предложено ознакомиться с брошюрой о генетическом скрининге на носительство вариантов, вызывающих развитие аутосомно-рецессивных заболеваний и заполнить анонимный опросник для выявления отношения к скринингу. Анкетирование продемонстрировало положительное отношение участников к проведению генетического скрининга, так как 73% опрошенных изъявили желание пройти скрининг, но у 46% были опасения касательно его возможных негативных последствий. При дальнейшем внедрении генетического скрининга на носительство вариантов, вызывающих развитие аутосомно-рецессивных заболеваний, в систему здравоохранения важно организовать просветительскую работу, информирующую население о роли скрининга и для устранения нежелательных последствий. Genetic carrier screening for autosomal-recessive disorders is an important part of hereditary diseases prevention at the stage of family planning. Patients of the Bauman clinic (18-49 years old women and men older 18 years) were asked to read a brochure about carrier screening for autosomal-recessive disorders and fill out an anonymous questionnaire to identify their attitudes towards screening. The questionnaire showed a positive attitude of the participants towards genetic screening, as 73% of respondents expressed a desire to undergo screening, but 46% had concerns about its possible negative consequences. With the further implementation of carrier screening by the healthcare system, it is important to organize educational work that will inform the population about the role of screening and for eliminating undesirable consequences.

Which types of conditions should be included in reproductive genetic carrier screening? Views of parents of children with a genetic condition

Reproductive genetic carrier screening identifies couples with an increased chance of having children with autosomal and X-linked recessive conditions. Initially only offered for single conditions to people with a high priori risk, carrier screening is becoming increasingly offered to individuals/couples in the general population for a wider range of genetic conditions. Despite advances in genomic testing technology and greater availability of carrier screening panels, there is no consensus around which types of conditions to include in carrier screening panels. This study sought to identify which types of conditions parents of children with a genetic condition believe should be included in carrier screening. Participants (n = 150) were recruited through Royal Children's Hospital (RCH) Melbourne outpatient clinics, the Genetic Support Network of Victoria (GSNV) and a databank of children with hearing loss (VicCHILD). This study found that the majority of participants support offering carrier screening for: neuromuscular conditions (n = 128/134, 95.5%), early fatal neurodegenerative conditions (n = 130/141, 92.2%), chronic multi-system disorders (n = 124/135, 91.9%), conditions which cause intellectual disability (n = 128/139, 92.1%) and treatable metabolic conditions (n = 120/138, 87.0%). Views towards the inclusion of non-syndromic hearing loss (n = 88/135, 65.2%) and preventable adult-onset conditions (n = 75/135, 55.6%) were more mixed. Most participants indicated that they would use reproductive options to avoid having a child with the more clinically severe conditions, but most would not do so for clinically milder conditions. A recurring association was observed between participants’ views towards carrier screening and their lived experience of having a child with a genetic condition.

Ethical issues in reproductive genetic carrier screening.

Ethical issues in reproductive genetic carrier screening.