{"entity":{"id":"idea-prev-reflex-germline-testing","kind":"idea","name":"Automatic germline testing for every cancer type where it changes care","aka":[],"tldr":"Anyone with ovarian, pancreatic, metastatic prostate or mismatch-repair-deficient colorectal cancer should be tested for inherited mutations, yet testing rates fall well short. Making it an automatic, opt-out laboratory step triggered by pathology, as reflex mismatch-repair testing already is, would close the gap.","summary":"Anyone with ovarian, pancreatic, metastatic prostate or mismatch-repair-deficient colorectal cancer should have germline testing, but testing rates fall well short, so this idea makes it an automatic opt-out laboratory step triggered by pathology, as reflex MMR and MSI testing already is, mainstreamed by oncologists with genetics support only for positives. Reflex mismatch-repair testing succeeded and mainstreaming trials show oncologists can consent patients. The aim is near-universal testing in eligible groups and proportionally more cascade testing of relatives. The test is health-system implementation with monthly testing-rate dashboards. Being tested at scale, it addresses the bottleneck Inherited risk is mostly unidentified.","asOf":"2026-09-08","links":[{"label":"Bottleneck evidence (Inherited risk is mostly unidentified): Childers et al., National estimates of genetic testing in women with breast or ovarian cancer (JCO 2017)","url":"https://doi.org/10.1200/JCO.2017.73.6314"}],"tags":[],"related":["prostate-roadmap","idea-prostate-hrr-testing-at-metastatic-diagnosis"],"cancers":["ovarian","pancreatic","prostate","colorectal"],"sections":["prevention","diagnostics"],"technologies":["germline-testing"],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":["germline-vs-somatic","msi"],"trials":[],"people":[],"bottlenecks":["b-hereditary-risk"],"keyPapers":["paper-childers-j-clin-oncol"],"journals":[],"dependsOn":[],"notes":[],"hypothesis":"Reflex opt-out testing raises germline testing to at least 90% in eligible groups and increases cascade testing of relatives proportionally.","rationale":"Reflex mismatch-repair testing succeeded, and mainstreaming trials show oncologists can consent patients.","test":"Health-system implementation with monthly testing-rate dashboards.","maturity":"being-tested-at-scale","actor":"clinic","cost":"small","horizonYears":2},"route":"/ideas/idea-prev-reflex-germline-testing/","neighbours":{"roadmap":[{"id":"prevention-roadmap","kind":"roadmap","name":"Cancer prevention roadmap: tobacco control and vaccines → biomarker-guided chemoprevention → interception in carriers","route":"/roadmaps/prevention-roadmap/"},{"id":"prostate-roadmap","kind":"roadmap","name":"Prostate cancer roadmap: from Huggins and the discovery that a cancer can depend on a hormone, through the PSA epidemic and what it cost, the androgen receptor drugs, the DNA repair subset and PSMA, to a 2032 registry watch","route":"/roadmaps/prostate-roadmap/"}],"idea":[{"id":"idea-prostate-hrr-testing-at-metastatic-diagnosis","kind":"idea","name":"Test every man for DNA repair faults on the day his prostate cancer is found to have spread, not three treatments later","route":"/ideas/idea-prostate-hrr-testing-at-metastatic-diagnosis/"}],"cancer":[{"id":"brca-palb2-pdac","kind":"cancer","name":"BRCA or PALB2-mutant pancreatic ductal adenocarcinoma","route":"/cancers/brca-palb2-pdac/"},{"id":"colorectal","kind":"cancer","name":"Colorectal cancer","route":"/cancers/colorectal/"},{"id":"early-onset-colorectal","kind":"cancer","name":"Early-onset colorectal cancer (under 50)","route":"/cancers/early-onset-colorectal/"},{"id":"kras-wild-type-pdac","kind":"cancer","name":"KRAS wild-type pancreatic ductal adenocarcinoma","route":"/cancers/kras-wild-type-pdac/"},{"id":"msi-high-pdac","kind":"cancer","name":"Mismatch repair deficient (MSI-high) pancreatic ductal adenocarcinoma","route":"/cancers/msi-high-pdac/"},{"id":"ovarian","kind":"cancer","name":"Ovarian cancer","route":"/cancers/ovarian/"},{"id":"pancreatic","kind":"cancer","name":"Pancreatic ductal adenocarcinoma","route":"/cancers/pancreatic/"},{"id":"prostate","kind":"cancer","name":"Prostate cancer","route":"/cancers/prostate/"}],"section":[{"id":"diagnostics","kind":"section","name":"Diagnostics & Biomarkers","route":"/fronts/diagnostics/"},{"id":"prevention","kind":"section","name":"Prevention & Risk","route":"/fronts/prevention/"}],"technology":[{"id":"germline-testing","kind":"technology","name":"Germline (hereditary) testing","route":"/technologies/germline-testing/"}],"term":[{"id":"germline-vs-somatic","kind":"term","name":"Germline vs somatic mutations","route":"/terms/germline-vs-somatic/"},{"id":"msi","kind":"term","name":"Microsatellite instability (MSI-H) / mismatch repair deficiency (dMMR)","route":"/terms/msi/"}],"bottleneck":[{"id":"b-hereditary-risk","kind":"bottleneck","name":"Inherited risk is mostly unidentified","route":"/bottlenecks/b-hereditary-risk/"}],"paper":[{"id":"paper-pritchard-inherited-dna-repair-metastatic-prostate-nejm-2016","kind":"paper","name":"Inherited DNA-repair gene mutations in men with metastatic prostate cancer","route":"/key-papers/paper-pritchard-inherited-dna-repair-metastatic-prostate-nejm-2016/"},{"id":"paper-childers-j-clin-oncol","kind":"paper","name":"National Estimates of Genetic Testing in Women With a History of Breast or Ovarian Cancer","route":"/key-papers/paper-childers-j-clin-oncol/"}]}}