Myriad Genetics, Inc. · Companion diagnostic · Companion diagnostic
olaparib is a companion diagnostic developed by Myriad Genetics, Inc.. It is approved for therapeutic indications via others.
| Brand Names | myChoice CDx |
| Company | Myriad Genetics, Inc. |
| Drug Class | Companion diagnostic |
| Route | Others |
| Status | Approved |
olaparib is developed for 1 unique indication across 1 therapeutic area.
| Therapeutic Area | Condition | Phase |
|---|---|---|
| Neoplasms benign, malignant and unspecified (incl cysts and polyps) | Uterine cancer | ✓ Approved |
Piseddu Andrea A, van Zeeland Yvonne Y, Hemsworth Lauren L, Rault Jean-Loup JL
[This corrects the article DOI: 10.1017/awf.2026.10089.].
Xie Weiwei W, Liu Riqiang R, Xu Zhiyong Z, Xie Yanyan Y
Breast metastasis from extramammary malignancies is rare, with ovarian cancer being an exceptionally uncommon primary source. These metastases frequently mimic primary breast carcinoma, posing substantial diagnostic and therapeutic challenges. A 44-year-old woman presented with a breast mass initially suspected to be a primary breast carcinoma based on estrogen receptor (ER) (+, 80%), progesterone receptor (PR) (+, 5%), and Human Epidermal Growth Factor Receptor 2 (HER2) (0) staining. However, subsequent workup revealed a synchronous ovarian high-grade serous carcinoma (PAX8+/WT1+), raising the question of dual primary versus metastatic disease and prompting re-review of the breast biopsy, which ultimately confirmed the metastatic ovarian origin of the breast lesion. A pathogenic germline BRCA1 mutation c.964del (p.Ala322Leufs*19) was identified. After neoadjuvant chemotherapy and cytoreductive surgery, the patient received olaparib maintenance therapy, achieving 27 months of progression-free survival before platinum-resistant recurrence. Repeat HER2 testing of the breast lesion at recurrence showed conversion to IHC 2 + with FISH amplification, prompting enrollment in a clinical trial evaluating an anti-HER2 antibody-drug conjugate (ADC). This case highlights three key points. First, the PAX8/WT1/GATA3 immunohistochemical panel is critical for distinguishing ovarian metastasis from primary breast carcinoma. Second, the route of spread from the ovary to the breast, possibly transdiaphragmatic via the cardiophrenic and internal mammary nodes, requires further investigation. Third, PARP inhibitor maintenance in the context of a germline BRCA1 mutation provided sustained disease control, and HER2 status conversion at recurrence opened a therapeutic window for sequential antibody-drug conjugate (ADC) therapy.
Vogel Ida I, Andreasen Lotte L, Tørring Pernille Mathiesen PM, Hvidbjerg Marie Skov MS et al.
We describe timing, diagnostic yield, secondary findings of prenatal whole genome sequencing (pWGS) in ongoing pregnancies during the first 5 years of implementation within a publicly funded healthcare system. Moreover, we discuss our collective clinical experiences implementing pWGS in prenatal care. We conducted a historical cohort study, including all singleton pregnancies undergoing pWGS after a normal chromosomal microarray between 2019 and 2023. Data on sample type, gestational age at test ordering, turnaround time, diagnostic yield, and secondary findings were extracted from all four Danish clinical genetics laboratories. A total of 207 cases were analyzed, including 85 chorionic villus samples and 122 amniotic fluid samples; trio sequencing was performed in 204/207 (98.6%). Median gestational age at ordering was 20 weeks (IQR 17-21). Median turnaround time for ongoing pregnancies was 11 working days (IQR 8-17). Pathogenic or likely pathogenic variants explaining the phenotype were identified in 33/207 pregnancies (15.9%, 95% CI 11.6-21.5). Yield was highest in hydrops (25.0%, 95% CI 12.0-44.9) and multiple anomalies (24.3%, 95% CI 13.4-40.1), and lowest in isolated increased nuchal translucency (7.1%, 95% CI 2.0-22.6). Secondary findings were reported in 18/207 cases (8.7%, 95% CI 5.6-13.3). pWGS was delivered within clinically relevant turnaround times. Applied after normal chromosomal microarray, the yield represents incremental diagnostic value in a chromosomal microarray-negative population. In clinical practice, both normal and abnormal pWGS results form a central component of counseling in ongoing pregnancies with unresolved fetal risk. However, the impact of such results on parental decision-making or pregnancy outcomes was not assessed in this study.
Kumbhare Shreyas V SV, Pedroso Inti I, Sinha Ranjan R, Almonacid Daniel E DE
Gastrointestinal (GI) adverse events, such as nausea, vomiting, diarrhea, and constipation, remain a dominant barrier to the sustained use of GLP-1 receptor agonists (GLP-1 RAs), driving discontinuation independently of the drug's metabolic benefits. Two host-side biological systems have been independently established as determinants of this variability. The first is host genetics, anchored by a 2026 genome-wide association study in which GLP1R variants predicted both weight-loss efficacy and nausea or vomiting risk, while a GIPR signal for vomiting was restricted to tirzepatide users. The second system is the gut microbiome, which regulates endogenous GLP-1 secretion through short-chain fatty acid and bile acid signaling and is itself reshaped by GLP-1 RA exposure. Pharmacomicrobiomics integrates host genetic and microbiome data to explain drug response. In the literature surveyed for this review, these two determinants are consistently examined in parallel rather than jointly: we did not identify a study, in GLP-1 RA therapy or in another drug class, that fit a 'host-genotype-by-microbiome' interaction model against a drug tolerability outcome. Published methodological studies have suggested why such a study would be challenging: both interaction detection and the measurement unreliability associated with single-timepoint microbiome profiling impose substantial sample size penalties. This review summarizes what host genetics and the microbiome individually do and do not explain about GLP-1 RA tolerability, and describes the study design features, paired genotyping, repeat-sample metagenomics, and prospective symptom capture that a future joint analysis would require.
Patterson Megan S MS, Maddock Jay E JE
The number of papers published in health promotion journals has grown substantially for two decades, and mainstream use of generative artificial intelligence (AI) has accelerated that growth. Yet peer review remains fundamentally unchanged. Review still depends on volunteer time, and many journals prohibit reviewers from using AI to protect confidential, unpublished work. The result is an asymmetry: authors write faster with AI, while reviewers face mounting demand without the same tools. Funding agencies have begun responding; the NIH, for example, now caps annual application submissions per principal investigator. Journals cannot impose comparable limits because submissions are scattered across thousands of independent outlets, and requiring authors to complete reviews in proportion to their publications would be nearly impossible to enforce. We propose a solution that concentrates limited reviewer capacity on the most complex and consequential research. Cross-sectional and other descriptive studies would be evaluated by a purpose-built AI reviewer, trained to assess methodological rigor in such studies and designed not to retain or learn from unpublished manuscripts. Accepted papers would appear in a companion journal or section of the parent title. Traditional peer review would then be reserved for longitudinal, experimental, and other higher-impact research. Beyond easing reviewer burden, this model creates a transparent signal of rigor that could help tenure and promotion committees reward quality over publication quantity.
Krause Femke F, Hoveling Liza A LA, Wilbrink Rosalie R, Abbel Denise D et al.
Delayed diagnosis in rare cancers can lead to disease progression, limited treatment options, and psychological distress, resulting in poorer quality of life and disability. We explored healthcare professionals' (HCPs) perceptions of diagnostic delay in rare cancers and options for patient support. Semi-structured interviews were conducted with 20 HCPs involved in rare cancer care. Interview topics covered diagnostic challenges, causes of delays, consequences for patients, and support options. Data were analyzed thematically. Three main themes emerged: (1) Time, intuition, and a safety-net fill the gap when signs are present, but not obvious. HCPs balance clinical intuition with safety-netting to avoid mis-, under-, or overdiagnosis when symptoms are vague, (2) Balancing speed and care in a fast-paced, complex diagnostic phase. Once cancer is suspected, the trajectory accelerates, yet systemic delays persist, and (3) Striving for precision: the paradox of reaching a diagnosis. While HCPs pursue diagnostic clarity, uncertainty often causes patients more distress than the diagnosis. HCPs manage the diagnostic trajectory of rare cancers through clinical judgment, safety-netting, and clear communication. As systemic delays and patient distress remain, early psychosocial support may help. Future research should define diagnostic delay, assess its impact, and identify support options.
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