Self-reported awareness of genetic testing, the impact of family history, and access to clinical trials for people diagnosed with ovarian cancer in Australia.

Objectives: To assess the understanding of people diagnosed with ovarian cancer regarding genetic testing; to understand knowledge gaps among people diagnosed with ovarian cancer that may impact best practice care; and to monitor overall changes in understanding from 2015 to 2022.

Design: Longitudinal 'opt-in' study using an online survey tool at three timepoints: 2015, 2018 and 2022.

Participants: People in Australia (or their families / caregivers) diagnosed with ovarian cancer between 2010 and 2022).

Anticipatory anxiety and participation in cancer screening. A systematic review.

Objectives: To synthesize current evidence on the association between anticipatory anxiety, defined as apprehension-specific negative affect that may be experienced when exposed to potential threat or uncertainty, and cancer screening to better inform strategies to maximize participation rates.

Methods: Searches related to cancer screening and anxiety were conducted in seven electronic databases (APA PsycINFO, Scopus, Web of Science, Embase, Cochrane Library, PubMed, CINAHL), with potentially eligible papers screened in Covidence. Data extraction was conducted independently by multiple authors.

In person and virtual process mapping experiences to capture and explore variability in clinical practice: application to genetic referral pathways across seven Australian hospital networks.

Genetic referral for Lynch syndrome (LS) exemplifies complex clinical pathways. Identifying target behaviours (TBs) for change and associated barriers requires structured group consultation activities with busy clinicians - consolidating implementation activities whilst retaining rigour is crucial. This study aimed to: i) use process mapping to gain in-depth understandings of site-specific LS testing and referral practices in Australian hospitals and support identification of TBs for change, ii) explore if barriers to identified TBs could be identified through process mapping focus-group data, and iii) demonstrate pandemic-induced transition from in-person to virtual group interactive process mapping methods.

Lynch syndrome testing of colorectal cancer patients in a high-income country with universal healthcare: a retrospective study of current practice and gaps in seven australian hospitals.

Background: To inform effective genomic medicine strategies, it is important to examine current approaches and gaps in well-established applications. Lynch syndrome (LS) causes 3-5% of colorectal cancers (CRCs). While guidelines commonly recommend LS tumour testing of all CRC patients, implementation in health systems is known to be highly variable.

Professional regulation for Australasian genetic counselors.

As a result of the ongoing global expansion of genetic counseling, the need to formalize a system of professional regulation for genetic counselors was identified in Australasia. In June 2017, under the auspices of the Human Genetics Society of Australasia (HGSA), a working party was convened. The purpose of the working party was to provide strategic leadership for the profession of Australasian genetic counselors with a goal to formalize a national regulatory framework for genetic counselors across both Australian and New Zealand jurisdictions.

Peritumoral granulomatous reaction in endometrial carcinoma: association with DNA mismatch repair protein deficiency, particularly loss of PMS2 expression.

Aims: The observation of peritumoral granulomatous reactions (PGRs) in two endometrial carcinomas (ECs) with a PMS2-deficient/MLH1-intact expression pattern led us to investigate whether PGRs in EC were specifically associated with DNA mismatch repair (MMR) protein deficiency, particularly PMS2 loss.

Methods And Results: Hysterectomy specimens from 22 MMR protein-intact and 54 MMR protein-deficient ECs were reviewed with specific attention to the presence of a PGR and a tumour-associated lymphoid reaction [including tumour-infiltrating lymphocytes (TILs) and stromal lymphoid infiltrates]. The MMR protein-deficient ECs included 22 cases with combined MLH1/PMS2 loss, 11 with combined MSH2/MSH6 loss, 11 with isolated MSH6 loss, and 10 with PMS2 loss but intact MLH1 staining (including the two 'index' cases).

Clinical and mutational spectrum of neurofibromatosis type 1-like syndrome.

Context: Autosomal dominant inactivating sprouty-related EVH1 domain-containing protein 1 (SPRED1) mutations have recently been described in individuals presenting mainly with café au lait macules (CALMs), axillary freckling, and macrocephaly. The extent of the clinical spectrum of this new disorder needs further delineation.

Objective: To determine the frequency, mutational spectrum, and phenotype of neurofibromatosis type 1-like syndrome (NFLS) in a large cohort of patients.

Quality and safety of genetic testing in Australia and New Zealand: a review of the current regulatory framework.

This paper provides an overview of the regulation of quality assurance for genetic testing in Australia and New Zealand and outlines the steps currently being taken to critically appraise and improve the regulatory framework in each country. It aims to contextualize this framework within the broader context of quality and patient safety concerns; and to draw together the concerns and recommendations of the various organizations that have been working to improve quality assurance in this area.