BACKGROUND: Neurofibromatosis Type 1 is an autosomal dominant tumour-predisposition condition commonly diagnosed in childhood and fully penetrant by adulthood. Long-term monitoring through imaging is inconsistent and varies between high- and low-income countries. Implementation of a clinical practice guideline through a multidisciplinary clinic is instrumental to the care of adult Neurofibromatosis Type 1 patients. We aim to systematically review international diagnostic modalities and strategies to evaluate any association between a country\'s socioeconomic status and diagnostic modalities or strategies used for Neurofibromatosis Type 1 patients.
METHODS: We searched PubMed, Embase, Web of Science, and Cochrane. Relevant clinical information on the surveillance of adult Neurofibromatosis Type 1 patients worldwide was reviewed, extracted, and synthesised.
RESULTS: We identified 51 papers reporting on 7724 individuals. Multiple imaging modalities are actively employed in high-income and upper-middle-income countries for surveying adult Neurofibromatosis Type 1 patients. We did not find any relevant papers from low- and middle-income countries.
CONCLUSIONS: This systematic review suggests that there is robust data on diagnostic modalities for adult Neurofibromatosis Type 1 patients in high-income countries, but not for low- and middle-income countries. There is a lack of data on consolidated diagnostic strategies from both high- and low-income countries. Efforts should be made to publish data on usual clinical practice in low- and middle-income countries to develop clinical practice guidelines describing best medical practice to fit a local context.

A frequent finding after preimplantation genetic diagnostic testing for aneuploidies using next-generation sequencing is an embryo that is putatively mosaic. The prevalence of this outcome remains unclear and varies with technical and external factors. Mosaic embryos can be classified by the percentage of cells affected, type of chromosome involvement (whole or segmental), number of affected chromosomes or affected cell type (inner mass cell, trophectoderm or both). The origin of mosaicism seems to be intrinsic as a post-zygotic mitotic error, but some external factors can play a role. As experience has increased with the transfer of mosaic embryos, clinical practice has gradually become more flexible in recent years. Nevertheless, clinical results show lower implantation, pregnancy and clinical pregnancy rates and higher miscarriage rates with mosaic embryo transfer when compared with the transfer of euploid embryos. Prenatal diagnosis is highly recommended after the transfer of mosaic embryos. This narrative review is intended to serve as reference material for practitioners in reproductive medicine who must manage a mosaic embryo result after preimplantation genetic testing for aneuploidies.

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

Genetic and genomic technologies can effectively diagnose numerous genetic disorders. Patients benefit when genetic counselling accompanies genetic testing and international guidelines recommend pre- and post-test genetic counselling with genome-wide sequencing. However, there is a gap in knowledge regarding the unique genetic counselling considerations with different types of genetic testing in the Neonatal Intensive Care Unit (NICU) and the Pediatric Intensive Care Unit (PICU). This scoping review was conducted to identify the gaps in care with respect to genetic counselling for infants/pediatric patients undergoing genetic and genomic testing in NICUs and PICUs and understand areas in need of improvement in order to optimize clinical care for patients, caregivers, and healthcare providers. Five databases (MEDLINE [Ovid], Embase [Ovid], PsycINFO [Ebsco], CENTRAL [Ovid], and CINHAL [Ebsco]) and grey literature were searched. A total of 170 studies were included and used for data extraction and analysis. This scoping review includes descriptive analysis, followed by a narrative account of the extracted data. Results were divided into three groups: pre-test, post-test, and comprehensive (both pre- and post-test) genetic counselling considerations based on indication for testing. More studies were conducted in the NICU than the PICU. Comprehensive genetic counselling was discussed in only 31% of all the included studies demonstrating the need for both pre-test and post-test genetic counselling for different clinical indications in addition to the need to account for different cultural aspects based on ethnicity and geographic factors.

UNASSIGNED: Patients with genetic cancer susceptibility are presented with complex management options involving difficult decisions, for example about genetic testing, treatment, screening and risk-reducing surgery/medications. This review sought to explore the experience of patients using decision support resources in this context, and the impact on decision-making outcomes.
UNASSIGNED: Systematic review of quantitative, qualitative and mixed-methods studies involving adults with or without cancer who used a decision support resource pre- or post-genetic test for any cancer susceptibility. To gather a broad view of existing resources and gaps for development, digital or paper-based patient resources were included and not limited to decision aids. Narrative synthesis was used to summarise patient impact and experience.
UNASSIGNED: Thirty-six publications describing 27 resources were included. Heterogeneity of resources and outcome measurements highlighted the multiple modes of resource delivery and personal tailoring acceptable to and valued by patients. Impact on cognitive, emotional, and behavioural outcomes was mixed, but mainly positive. Findings suggested clear potential for quality patient-facing resources to be acceptable and useful.
UNASSIGNED: Decision support resources about genetic cancer susceptibility are likely useful to support decision-making, but should be co-designed with patients according to evidence-based frameworks. More research is needed to study impact and outcomes, particularly in terms of longer term follow-up to identify whether patients follow through on decisions and whether any increased distress is transient. Innovative, streamlined resources are needed to scale up delivery of genetic cancer susceptibility testing for patients with cancer in mainstream oncology clinics. Tailored patient-facing decision aids should also be made available to patients identified as carriers of a pathogenic gene variant that increases future cancer risks, to complement traditional genetic counselling.
UNASSIGNED: https://www.crd.york.ac.uk/prospero/display_record.php?ID=CRD42020220460, identifier: CRD42020220460.

OBJECTIVE: To assess the effectiveness of decision aids for genetic counsellees to improve their conflicts in decision-making and psychological well-being when considering genetic tests for inherited genetic diseases, and their knowledge about these tests and their genetic risks.
METHODS: Systematic review.
METHODS: Six electronic databases (PubMed, MEDLINE, OVID Nursing, APA PsycINFO, EMBASE and CINAHL) were searched from inception to May 2022.
METHODS: Only randomised controlled trials that examined the effect of decision aids for information provision centring genetic testing on outcomes including decisional conflicts, informed choice making, knowledge on genetic risks or genetic tests, and psychological outcomes among participants who had undergone genetic counselling were included. Their risk of bias was assessed using the Version 2 of the Cochrane risk of bias tool for randomised trials. Results were presented narratively. The review was conducted according to the PRISMA checklist.
RESULTS: Eight included studies examined the effect of booklet-based, computer-based, film-based or web-based decision aids on individuals considering genetic testing for their increased cancer risks. Despite contrasting findings across studies, they showed that decision aids enable genetic counsellees to feel more informed in decision-making on genetic tests, although most showed no effect on decisional conflict. Knowledge of genetic counsellees on genetic risks and genetic tests were increased after the use of decision aids. Most studies showed no significant effect on any psychological outcomes assessed.
CONCLUSIONS: Review findings corroborate the use of decision aids to enhance the effective delivery of genetic counselling, enabling genetic counsellees to gain more knowledge of genetic tests and feel more informed in making decisions to have these tests.
CONCLUSIONS: Decision aids can be used to support nurse-led genetic counselling for better knowledge acquisition and decision-making among counsellees.
UNASSIGNED: Patient or public contribution is not applicable as this is a systematic review.

Xq22.1-q22.3 deletion is a rare chromosome aberration. The purpose of this study was to identify the correlation between the phenotype and genotype of chromosome Xq22.1-q22.3 deletions.
Chromosome aberrations were identified by copy number variation sequencing (CNV-seq) technology and karyotype analysis. Furthermore, we reviewed patients with Xq22.1-q22.3 deletions or a deletion partially overlapping this region to highlight the rare condition and analyse the genotype-phenotype correlations.
We described a female foetus who is the \"proband\" of a Chinese pedigree and carries a heterozygous 5.29 Mb deletion (GRCh37: chrX: 100,460,000-105,740,000) in chromosome Xq22.1-q22.3, which may affect 98 genes from DRP2 to NAP1L4P2. This deletion encompasses 7 known morbid genes: TIMM8A, BTK, GLA, HNRNPH2, GPRASP2, PLP1, and SERPINA7. In addition, the parents have a normal phenotype and are of normal intelligence. The paternal genotype is normal. The mother carries the same deletion in the X chromosome. These results indicate that the foetus inherited this CNV from her mother. Moreover, two more healthy female family members were identified to carry the same CNV deletion through pedigree analysis according to the next-generation sequencing (NGS) results. To our knowledge, this family is the first pedigree to have the largest reported deletion of Xq22.1-q22.3 but to have a normal phenotype with normal intelligence.
Our findings further improve the understanding of the genotype-phenotype correlations of chromosome Xq22.1-q22.3 deletions.This report may provide novel information for prenatal diagnosis and genetic counselling for patients who carry similar chromosome abnormalities.

UNASSIGNED: Genetic counselling is essential for individuals seeking genetic or genomic testing. Whereas innovative strategies for GC delivery are being explored to meet the growing demand on the clinical genetics workforce, it is essential to consider the unique needs of culturally and linguistically diverse populations.
UNASSIGNED: We conducted a scoping review to examine the extent, range, and gaps in the body of non-English, patient-facing educational resources available for Limited English Proficient (LEP) patients accessing clinical genetics and genomics services.
UNASSIGNED: The literature search returned 246 unique resources, most available in several languages. Forty-six languages were represented, with Spanish, Russian, and French being the most common. Resources were in various formats and were of varying quality.
UNASSIGNED: There is a lack of high-quality supplementary genetics education material available in languages other than English, which limits the quality-of-care that LEP families may receive compared to their English-speaking counterparts. Of equal concern is the difficulty in finding existing resources and in determining their quality.
UNASSIGNED: This research highlights the important need for genetics education material that is of good quality in languages other than English and the challenges associated with identifying this material. A central, curated repository, perhaps sponsored by a genetic counselling organization, would be of great benefit to help genetic counsellors meet the needs of their culturally and linguistically diverse patients.

BACKGROUND: Patient-facing digital technologies may reduce barriers to and alleviate the burden on genetics services. However, no work has synthesised the evidence for patient-facing digital interventions for genomics/genetics education and empowerment, or to facilitate service engagement more broadly. It is also unclear which groups have been engaged by digital interventions.
OBJECTIVE: This systematic review explores which existing patient-facing digital technologies have been used for genomics/genetics education and empowerment, or to facilitate service engagement, and for whom and for which purposes the interventions have been developed.
METHODS: The review adhered to the Preferred Reporting Items for Systematic reviews and Meta-Analyses guidelines. Eight databases were searched for literature. Information was extracted into an Excel sheet and analysed in a narrative manner. Quality assessments were conducted using the Mixed Methods Appraisal Tool.
RESULTS: Twenty-four studies were included, of which 21 were moderate or high quality. The majority (88%) were conducted in the United States of America or within a clinical setting (79%). More than half (63%) of the interventions were web-based tools, and almost all focussed on educating users (92%). There were promising results regarding educating patients and their families and facilitating engagement with genetics services. Few of the studies focussed on empowering patients or were community-based.
CONCLUSIONS: Digital interventions may be used to deliver information about genetics concepts and conditions, and positively impact service engagement. However, there is insufficient evidence related to empowering patients and engaging underserved communities or consanguineous couples. Future work should focus on co-developing content with end users and incorporating interactive features.

Lynch syndrome (LS) is an autosomal dominant condition that increases an individual\'s risk of a constellation of cancers. LS is defined when an individual has inherited pathogenic variants in the mismatch repair genes. Currently, most people with LS are undiagnosed. Early detection of LS is vital as those with LS can be enrolled in cancer reduction strategies through chemoprophylaxis, risk reducing surgery and cancer surveillance. However, these interventions are often invasive and require refinement. Furthermore, not all LS associated cancers are currently amenable to surveillance. Historically only those with a strong family history suggestive of LS were offered testing; this has proved far too restrictive. New criteria for testing have recently been introduced including the universal screening for LS in associated cancers. This has increased the number of people being diagnosed with LS but has also brought about unique challenges such as when to consent for germline testing and questions over how and who should carry out the consent. The results of germline testing for LS can be complicated and the diagnostic pathway is not always clear. Furthermore, by testing only those with cancer for LS we fail to identify these individuals before they develop potentially fatal pathology. This review will outline these challenges and explore solutions. Furthermore, we consider the potential future of LS care and the related treatments and interventions which are the current focus of research.