Aug 2026· New Zealand Science Review· Vol 80· 0 citations
TL;DR
In Aotearoa/New Zealand engagement with, or work led by, Māori and Pasifika voices is required and there are already existing examples to show how widely and successfully this programme has been adopted overseas.
Abstract
• Precision medicine is a valuable new tool to aid diagnosis and prescription
• A new generation of DNA sequencing technology makes it possible to obtain complete genomes for individual patients.
• Large-scale genome-wide surveys of associations between DNA markers and disease conditions are a key resource in this process.
• Individual patients will be able to get health advice based on their personal Polygenic Risk Score (PRS).
• All PRS statistics depend on knowledge about ancestry.
• In Aotearoa/New Zealand engagement with, or work led by, Māori and Pasifika voices is required.
• There are already existing examples to show how widely and successfully this programme has been adopted overseas.
Key Points Question Can a genome-wide association study (GWAS) approach be used to identify genes associated with inherited retinal disease (IRD)? Findings Using a recessive model, this GWAS identified 13 loci (9 known and 4 previously unknown putative loci) with genome-wide significance. One of the identified genes, XXYLT1, was confirmed as a rare mendelian IRD gene in independent Finnish and UK clinical cohorts; an XXYLT1 c.505-1G>C founder variant showed a loss-of-function effect. Meaning These findings support the need to include XXYLT1 in clinical IRD gene panels.
Minna Kraatari-Tiri, Hina Ishtiaq, J. Tyrmi et al.· JAMA ophthalmology· 0 citations
Diagnosing rare muscle diseases can be challenging due to their genetic heterogeneity. The French National Network for Rare Neuromuscular Diseases (FILNEMUS) has previously established a pioneering nationwide strategy based on gene lists organized in 13 phenotype-specific gene panels. We now revise these lists and add recently described genes. Using data collected from all FILNEMUS diagnostic laboratories, we also establish a “Major Muscle Genes” panel that includes genes responsible for the most frequent genetic muscle diseases. The updated diagnostic strategy of the FILNEMUS network will help reduce the turn-around time for genetic results and facilitate rapid access to the French national genome sequencing platforms.
E. Pion, M. Cossée, Valérie Biancalana et al.· Journal of Neuromuscular Dis...· 0 citations
Precision medicine is moving away from a "one size fits all" model and moving towards the treatment of
the individual patient. The paradigm shift is tied to a study of how genetic variation affects drug response, called
Pharmacogenomics (PGx). This paper highlights three undeniably interrelated trends: Firstly, the need for ancestry
diverse datasets for equitable implementation of PGx; secondly, a pharmacist-led economically viable model of PGx
delivery; thirdly, Decoding drug-response phenotypes using a synthetic process of integrating AI with multi-omics
data. Existing data suggests that the combination of AI tools for analytics, integrated multi-omics tools that incorporate
metabolomics, and community implementation is all driving PGx from an area of research curiosity to a clinical
standard, despite the issues of algorithmic bias, reimbursement, and translation that will require resolution. A blueprint
is provided for both researchers, clinicians, and policymakers.
Hannah Alex· International journal of res...· 0 citations
Precision medicine (also known as individualized or personalized medicine) is a novel approach that integrates genetic, environmental, and lifestyle data to drive medical care decisions. It aims to give more precise approaches to illness prevention, diagnosis, and treatment.(1) In oncology, precision medicine is based on the premise that malignancies are not all the same, and people may respond differently to therapies depending on their genetic, environmental, and lifestyle variables.(2) In high-income countries, precision medicine is frequently associated with genomics and molecular profiling. The most common cancers (lung, breast, colorectal, prostate, stomach) all require histopathological diagnosis and immunohistochemistry (IHC) (e.g. ER/PR/HER2 in breast cancer) as part of the WHO Essential Diagnostics framework. Therefore, precision medicine does not have to include expensive whole-genome sequencing. Accurate pathology, basic immunohistochemistry, morphology, and low-cost molecular diagnostics can all provide precision treatment.
Ariba Asif· International journal of pat...· 0 citations
With continued progress in precision medicine and genomics, these AI genomic tools are likely to be integrated more into medical genetics practice, rather than remaining restricted to specialised or experimental settings.
R. Sadanand, N. Gupta· Indian Journal of Pediatrics· 1 citation
Polygenic risk scores stratifies lifetime adenoma and CRC risk and may inform risk-based screening initiation and intensity but adds limited predictive value when combined with FIT.
A. Nøhr, M. G. Overby, M. Nielsen et al.· British Journal of Cancer· 0 citations
We use cookies to run the site and, with your consent, for analytics and to show ads.
See our Cookie Policy.
