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At least 19 recordsLinked to original sources
PubMed2026

Access to Guideline-Concordant Oncology Genomic Testing: A Qualitative Study of Black Cancer Patients and Oncology Providers.

Genomic testing is a key component of precision oncology; however, Black patients receive genomic testing at lower rates. The purpose of this qualitative study was to identify individual and health system drivers of genomic testing disparities at a National Cancer Institute-designated comprehensive cancer center. We conducted interviews with 15 oncology providers and 11 Black cancer patients between September 2023 and October 2024. These patients were eligible for genomic testing based on National Comprehensive Cancer Network (NCCN) guidelines, being diagnosed within last 10 years (2014-2023), at least 18 years old, and English-speaking. Providers included oncologists and oncology patient navigators. Topics included motivators, barriers, and knowledge of genomic testing and factors influencing decision-making. The Penchansky and Thomas theoretical framework of healthcare access (e.g., availability, accessibility, accommodation, affordability, and acceptability) guided thematic analysis. Among patients eligible for genomic testing, most participants (n = 7) received genomic testing as part of their cancer treatment based on EMRs, however many patients (n = 7) could not recall discussing genomic testing with their oncologist. Most patients and all providers highlighted affordability as a challenge: patients were concerned about unexpected costs associated with testing, while providers were concerned about costs of matched molecular targeted therapy. Both patients and providers highlighted patient-centered communication to mitigate mistrust and promote patient engagement in care. Despite limited awareness, Black patients view genomic testing positively. Addressing multiple dimensions of access is key to improving system-level processes and ensuring that more patients benefit from lifesaving targeted therapy.

Humans↗
PubMed2024

Payer perspectives on genomic testing in the United States: A systematic literature review.

PURPOSE: Health care stakeholders' perspectives on the value of genomic testing vary widely and directly affect the access and practice of genomic medicine. To our knowledge, a review of US health care payers' perspectives on genomic testing has not been performed. METHODS: We conducted a systematic literature review of US payers' perspectives on genomic testing in the MEDLINE, PubMed, and Cumulative Index to Nursing and Allied Health Literature (CINAHL) databases. Of the 161 nonduplicate records screened, we summarized findings from 20 included records, and using the framework method, common domains were recorded. RESULTS: Domains included clinical utility, coverage decision frameworks, potential harms, costs, paying for research, demand/pressure, the flexibility of outcomes considered, and personal utility. There was consensus on the definition of clinical utility as improved health outcomes, and the nuances of genomic testing were reported as challenging to fit within existing coverage decision frameworks. Perspectives varied on accepting broader outcomes or uses of genomic testing and whether costs influence coverage decisions. Study methodologies were heterogeneous. CONCLUSION: A deeper understanding of how payers approach genomic testing may allow comparison with other stakeholders' perspectives and may identify challenges, opportunities, and solutions to align a conceptual and evidentiary framework better to demonstrate the value of genomic testing.

Humans↗
PubMed2016

Implications of Personal Genomic Testing for Health Behaviors: The Case of Smoking.

INTRODUCTION: Direct-to-consumer personal genomic testing has the potential to influence health behaviors, including smoking. Critics of this testing highlight limited evidence to support positive behavioral benefits and caution that genomic results may provide false reassurance, leading to unhealthy behaviors. This study investigates interest in genetic risks of smoking-related diseases and changes in smoking behaviors among genomic testing consumers. METHODS: From 2012 to 2013, a longitudinal series of web surveys was conducted. A total of 1464 customers of 23andMe and Pathway Genomics completed a survey prior to viewing genomic test results, of which 1002 participants provided data on smoking behaviors 6 months after receiving results. RESULTS: At baseline, 64% of participants were never smokers, 29% were former smokers, and 7% were current smokers. Most baseline current smokers were very interested in genetic risk results for lung cancer (65%) and heart disease (72%). For lung cancer, this interest was significantly greater than former (50% very interested) and never smokers (37% very interested) (p < .0001). Even though participants were interested in smoking-related disease genetic risks, 96% reported the same smoking status at baseline and 6-month follow-up. Importantly, only 1% (n = 13/916) of former and never smokers became current smokers at 6 months and 22% (n = 14/64) of current smokers reported quitting. CONCLUSIONS: Overall, smokers show a high level of interest in genetic risks of smoking-related illnesses. The experience of receiving direct-to-consumer genomic health risks does not appear to have obvious harms related to smoking behaviors, with some potential benefits. IMPLICATIONS: In the setting of ongoing controversy surrounding direct-to-consumer genomic testing, this study provides evidence that consumers are interested in genetic risk results of smoking-related diseases. Receiving genomic testing results does not lead to smoking initiation among never smokers or reinitiation among former smokers and may be associated with a higher quit rate among current smokers at 6-month follow-up than the general population. These findings ease concerns that direct-to-consumer genomic testing could lead to false reassurance and unhealthy behaviors related to smoking.

Adolescent↗
PubMed2025

The impact of genetic counselor involvement in genetic and genomic test order review: A scoping review.

PURPOSE: The increasing complexity of genetic technologies paired with more genetic tests being ordered by nongenetic health care providers, has resulted in an increase in the number of inappropriately ordered tests. Genetic counselors (GCs) are ideally suited to assess the appropriateness of a genetic test. METHODS: We performed a scoping review of GC involvement in utilization management initiatives in order to describe the impact of having GCs involved in this process. Five databases (MEDLINE, EMBASE, CINHAL, EBM reviews, and Web of Science Core Collection) and gray literature were searched. We considered literature published in English since&#xa0;2010. RESULTS: A total of 51 studies were included. The most commonly evaluated outcomes included cancellation rate, economic efficiencies, impact on medical management, diagnostic rate, and time or triage efficiencies. Several studies also described GC impact on nongenetic health care providers. CONCLUSION: Employment of GCs in the laboratory has been implemented widely as a solution to test misordering. These studies describe ways in which GCs can be integrated into testing workflows to reduce the number of inappropriate tests and have wider impacts on nongenetic health care providers' ordering practices and the patient experience.

Humans↗
PubMed2026

The work of specialist nurses in the mainstreaming of germline genomic testing in cancer: an investigation.

BACKGROUND: Specialist nurses are increasingly working in the mainstreaming of germline genomic testing in cancer. AIMS: The study aimed to investigate the work of specialist nurses in the mainstreaming of germline genomic testing in cancer, with a focus on Lynch syndrome, and to consider the future of genomics in nursing. METHODS: Semi-structured interviews were conducted with a purposive sample of 12 specialist nurses and three genetic counsellors, and thematic analysis was carried out. FINDINGS: Prominent themes arising from the data were: the capability and capacity of specialty-based clinical nurse specialists, for whom genomics is an added part of their wider role, to deliver genomic testing; and whether these specialty-based nurses or specialist genomic nurses, who work only in genomics, are best placed to deliver genomic testing. CONCLUSION: When planning service provision in the mainstreaming of genetic testing, the capacity and capability of specialty-based clinical nurse specialists should be considered alongside the possible need for specialist genomic nurses.

Humans↗
PubMed2026

Survey of diagnostic laboratories highlights need for improved standards in somatic genomic testing and reporting.

There is a growing international need to support somatic genomic testing, standardised variant curation and improved patient access to molecular profiling for somatic conditions, including cancer. We conducted a survey of scope, curation, reporting and sharing practices of diagnostic laboratories performing somatic testing in Australia and New Zealand. Laboratories with accreditation (n&#x2009;=&#x2009;41) were invited in 2023 to complete a semi-structured, 25-question interview. Responses were received for 27 laboratories (66% response rate) offering solid tumour, haematological malignancy and non-cancer services. Only 36% of laboratories offered tests capturing the full breadth of variants, from single-nucleotide variants to gene fusions. Knowledge sharing was rare, with only one laboratory submitting variant classifications to a public knowledge base. Most laboratories (96%) conducted somatic testing in oncology. Of cancer laboratories, 35% offered testing considered capable of comprehensive genomic profiling (CGP). Almost half of cancer laboratories had already adopted the 2022 ClinGen/CGC/VICC oncogenicity guidelines, and 84% were using AMP/ASCO/CAP 2017 clinical significance guidelines. Only 47% of mixed discipline&#xa0;cancer laboratories reported biomarkers such as tumour mutational burden, with wide variation in reporting of matched therapy options. Our study has generated a unique overview of somatic laboratory practices in the region, and areas for global standardisation in somatic molecular testing and reporting. We also provide a model for practice and guideline uptake assessment, for application by other country-wide networks. This is particularly relevant in anticipation of CGP mainstreaming, with the increasing complexity of sequencing interpretation for laboratories and clinicians.

Humans↗
PubMed2026

H&E to recurrence score: A step forward, but not yet a substitute for genomic testing.

Shamai and colleagues developed a multimodal deep-learning model that predicts Oncotype DX recurrence scores from routine H&E slides and clinicopathological variables in hormone receptor&#x2011;positive, HER2&#x2011;negative early breast cancer. Validated across the TAILORx trial and six external cohorts (over 5000 patients), the model achieved an AUC of 0.898 for identifying recurrence score &#x2265;26 and recapitulated genomic assay patterns of chemotherapy benefit. Notably, 31% of clinically high-risk postmenopausal women were downgraded to low risk by AI, suggesting potential to reduce overtreatment. However, several limitations preclude immediate clinical substitution for genomic testing. First, intratumoural heterogeneity leads to discordant predictions with unclear management guidance. Second, the model's chemotherapy benefit estimates rely on TAILORx's age-based menopausal surrogates, which may not reflect real-world hormonal status or LHRH agonist use. Third, predictive value in node-positive disease remains untested in randomised datasets such as RxPONDER. Additionally, calibration uncertainty near risk thresholds and global scalability issues (including IHC requirements and digital pathology infrastructure) persist. While this represents a landmark step toward democratising precision oncology, the AI tool should currently serve as a complementary decision aid, with genomic testing remaining the gold standard for intermediate, borderline, or discordant cases.

Breast cancer↗
PubMed2025

Genomic testing for RET in the clinic: UK and global perspective.

RET is a key oncogene in neuroendocrine cancer. Pathogenic germline variants lead to multiple different phenotypes, including multiple endocrine neoplasia type 2, medullary thyroid cancer (MTC), Hirschsprung disease and kidney malformations. Pathogenic somatic variants are also associated with MTC, and RET rearrangements are observed in papillary thyroid cancer, non-small cell lung cancer and pan-cancer syndromes. Testing for both germline and somatic variants is now feasible in everyday clinical practice, and their identification has important clinical consequences, both for affected individuals and their families. This mini-review will discuss current germline and somatic testing strategies in the UK and worldwide, as well as reporting and test outcomes (including variants of uncertain significance or incidental findings). It will explore actions following identification of a pathogenic germline variant, including predictive, reproductive and childhood testing, and somatic testing of RET variants in solid tumours informing personalised cancer treatment. Finally, it will discuss the challenge of delivering rapid and equitable access to genomic testing to ensure that all individuals can benefit promptly and appropriately to improve clinical outcomes.

Humans↗
PubMed2026

An economic evaluation of functional genomic testing for individuals with undiagnosed rare disorders.

PURPOSE: Functional genomics (FG) approaches, such as RNA-seq and proteomics, offer a complementary diagnostic modality for individuals whose cases remain unsolved after genomic sequencing. This study evaluates the cost-effectiveness and cost-benefit of FG for individuals with suspected monogenic disorders relative to manual reanalysis of genomic data at 18 months. METHODS: A decision tree model compared the costs and outcomes of FG and 18-month reanalysis using data from two Australian Undiagnosed Disease Programs. Deterministic and probability sensitivity analysis were performed. RESULTS: With a diagnostic yield of 13%, FG enabled 4 additional diagnoses per 100 individuals tested at an additional cost of $390 (US $240), resulting in an incremental cost-effectiveness ratio of $8,550 ($5,313) and an 85% probability of being cost-effective. CONCLUSION: Functional genomics enables timely diagnosis for individuals with suspected monogenic disorders by evaluating the functional impact of variants of uncertain significance, offering an advantage over reanalyzing genomic data at 18 months. Integration into the Australian healthcare system, supported by collaborative networks and secure data-sharing infrastructure, coupled with addressing barriers to accessing funded genomic testing, could lead to an annual net benefit of up to $1.1 million ($0.7 M).

Functional genomics↗
PubMed2026

Selective Omission of Oncotype Dx Genomic Testing in Ultra-Low-Risk Luminal A Breast Cancer.

INTRODUCTION: Older women with early-stage luminal A breast cancer have an excellent prognosis with a 5-year relative survival >99%. Research on curtailing overtreatment has challenged historical standards of care by reducing radiotherapy dose and volume, and selectively omitting sentinel lymph node biopsy. This study assessed the utility of Oncotype Dx genomic testing in ultra-low-risk luminal A breast cancer. PATIENTS AND METHODS: A community hospital cancer registry was queried to identify consecutive breast cancer patients from 2014 to 2022. An ultra-low-risk population was defined as age &#x2265;60 years, hormone-receptor positive, HER2-negative, pathologic stage T1b-T2N0 without lymphovascular invasion, and Ki-67 &#x2264;13.25%. Analyses examined the distribution of Oncotype Dx scores categorized as low risk (0-18), intermediate risk (19-25), or high risk (26-100), as well as recurrence and overall survival. RESULTS: Of 1711 patients, 91 met ultra-low-risk eligibility criteria with available Oncotype Dx results. The median age was 70 years with a median follow-up of 5.1 years, and no patients received chemotherapy. Only 1 patient (1.1%) had a high-risk Oncotype Dx score of &#x2265;26, while 12 (13.2%) had intermediate scores and 78 (85.7%) were low risk. Five-year local control and overall survival were 100% and 93%, respectively. Ten non-breast cancer deaths occurred, and no patients developed distant metastases. CONCLUSION: We describe a pragmatic method using common clinical and pathological features to define an ultra-low-risk cohort. Older luminal A patients with favorable pathology have a very low probability of receiving a high-risk Oncotype Dx score and demonstrate an excellent prognosis with standard adjuvant therapy.

Chemotherapy↗
PubMed2026

Cost-Effectiveness and the Economics of Genomic Testing and Molecularly Matched Therapies.

Cost-effectiveness analysis of precision oncology can help guide value-driven care. Next-generation sequencing is increasingly cost-efficient over single gene testing because diagnostic algorithms require multiple individual gene tests to determine biomarker status. Matched targeted therapy is often not cost-effective due to the high cost associated with drug treatment. However, genomic profiling can promote cost-effective care by identifying patients who are unlikely to benefit from therapy. Additional applications of genomic profiling such as universal testing for hereditary cancer syndromes and germline testing in patients with cancer may represent cost-effective approaches compared with traditional history-based diagnostic methods.

Humans↗
PubMed2026

Challenges of genomic testing for patients and clinicians in Latin America: Foundations of a qualitative multi-country study.

Genomic medicine is expanding across Latin America (LATAM), yet access to essential ancillary services such as genetic counselling remains limited. 'Latin-SEQ' is a study that provides whole exome sequencing (WES) for neuromuscular diseases across 18 countries, aiming to improve diagnostic rates and generate region-specific genetic insights. However, funding constraints exclude genetic counselling and cascade testing, raising concerns about equitable and harm-free care. This paper reports early findings from 'Latin-SEQ Plus,' a mixed-methods study exploring patient and healthcare practitioner (HCP) perspectives on WES and genetic counselling. Data were generated via surveys with patients and HCPs, and participatory workshops with HCPs across six countries. We found that patients strongly valued genetic testing for diagnostic clarity, improved care, and family planning. HCPs acknowledged the diagnostic benefits of WES but highlighted absence of local genetic counselling services, inconsistent pre and post-test practices, and uncertainty in managing incidental findings and variants of uncertain significance (VUS). Psychological impacts related to WES results are not always addressed, underscoring risks of psychological and emotional harm for patients. Access to WES and genetic counselling is limited in LATAM due to financial hardship and the absence of a clear genetic counselling infrastructure. Our findings also reveal a mismatch between patient expectations and HCPs' capacity to deliver comprehensive genomic care. We argue for urgent investment in genetic counselling infrastructure, HCP training, culturally tailored resources, and policy frameworks to support equitable implementation of genomic medicine in LATAM.

Humans↗
PubMed2026

TargetQC: A targeted quality control framework for clinical genomic testing.

Reliable genetic testing depends on accurate assessment of sequencing quality in clinically relevant genomic regions that directly influence variant interpretation. We developed TargetQC, a flexible quality control framework that supports user-defined gene sets, coverage thresholds, and variant sets for evaluating sequencing performance across exome sequencing (ES) and genome sequencing (GS) platforms. TargetQC assesses exon and gene coverage, identifies regions meeting predefined coverage thresholds, evaluates variant detection accuracy, and measures sequencing quality at pathogenic variant sites. We applied TargetQC to the reference sample NA12878 and 665 clinical samples across five ES platforms and one GS platform. ES-VendorB and ES-VendorE achieved the most complete coverage of OMIM coding regions in NA12878, whereas ES-VendorD and ES-VendorE showed the highest coverage compliance in clinical samples. ES-VendorB and GS demonstrated the highest variant detection accuracy. TargetQC provides a practical framework for benchmarking sequencing performance and informing platform selection in clinical genomics.

exome sequencing↗
PubMed2025

Barriers and facilitators to implementing clinical genome-wide sequencing: A scoping review of the global landscape.

PURPOSE: The global demand for clinical genome-wide sequencing (GWS) continues to grow. This study describes the global landscape of genetic service delivery and the barriers and facilitators to implementing clinical GWS. METHODS: A scoping review was conducted using MEDLINE and Embase (January 2009-July 2025) to identify studies related to genetic service delivery, exome and genome sequencing, and implementation. RESULTS: Ninety-six articles representing 35 countries were analyzed using the updated Consolidated Framework for Implementation Research. The most frequently reported barriers were within the outer setting: insufficient Local Conditions (ie, genetics workforce shortage; 54/96, 56%), limited Financing (29/96, 30%), and lack of national Policies and Laws (regulations) for genomic testing (20/96, 21%). Negative Local Attitudes about genomics were reported as a barrier in 11 South American, Middle Eastern, Asian, and African countries. Identified outer setting facilitators included Partnerships and Connections between interested parties (eg, government, academic institutions; 14/96, 15%) and dedicated Funding for national genomics initiatives (6/96, 6%). CONCLUSION: This scoping review identified common barriers to implementing GWS across countries with varying capacities for delivering these services. Findings may help countries to anticipate barriers, leverage facilitators, and develop strategies for implementing genomic testing and services.

Humans↗
PubMed2026

Nucleic acid amplification testing and genome sequencing for WHO priority viruses in Africa: a scoping review.

Emerging viruses continue to pose serious public health threats across Africa, with recurrent outbreaks exposing gaps in diagnostics and surveillance systems. Nucleic acid amplification tests (NAATs) and genome sequencing are increasingly important for diagnostics and outbreak responses; however, their routine implementation is fragmented. This scoping review examines NAATs and genome sequencing technologies for viral detection and surveillance in Africa from 2019 to 2024, mapped to the 2024 updated WHO R&D Blueprint for Epidemics pathogen priority list. We identified 117 studies from 34 African countries reporting applications across 20 virus families, including ten designated as priorities by WHO. PCR-based assays were the most frequently reported NAATs. Illumina platforms predominated sequencing, and Oxford Nanopore Technologies were commonly used in outbreak investigations. Genome sequencing applied to priority viruses was largely reactive. NAAT-capable mobile laboratories were reported in 13 countries. Our findings underscore the need for proactive integration of NAATs into diagnostic and surveillance systems to strengthen decentralised testing, sustain genomic surveillance beyond outbreak periods, and improve early detection and preparedness for viral threats.

Journal Article↗
PubMed2024

The "genetic test request": A genomic stewardship intervention for inpatient exome and genome orders at a tertiary pediatric hospital.

PURPOSE: Exome sequencing (ES) and genome sequencing (GS) are useful tests to diagnose rare diseases in pediatric patients in critical care settings. Genomic test stewardship can increase the appropriate use of these tests leading to improved diagnostics and cost savings. METHODS: A mandatory review of ES and GS orders for admitted patients was implemented in March 2023. Outcomes of the reviews, cost analysis, and subsequent test results through February 2024 were analyzed with descriptive statistics. RESULTS: There were 444 genetic test request orders placed for 412 unique patients. Of these, 81 (18.2%) were redirected and 57 (12.8%) required modification after approval, leading to an overall cost savings of $345,821.00 or $778.88 per order. The combined diagnostic rate was 28.2% in this patient population. CONCLUSION: Stewardship of ES/GS orders for pediatric inpatients is an effective tool to improve the appropriate usage of these genomic tests. Additional collaboration with stakeholders and expansion of genomic stewardship initiatives may shorten the diagnostic odyssey for critically ill pediatric patients and result in cost savings.

Humans↗
PubMed2026

Endoscopic ultrasound-guided biopsy of left and right adrenal metastases enabling pathological diagnosis and genomic profiling after nondiagnostic conventional biopsies: two case reports.

Obtaining adequate tissue for histologic diagnoses and genomic testing can be challenging in metastatic lung cancer, particularly when conventional biopsy approaches are nondiagnostic. The study reports an effective salvage strategy using endoscopic ultrasound (EUS)-guided adrenal tissue acquisition in two cases. A 66-year-old woman (case 1) developed recurrent lung adenocarcinoma with progressive metastases to the left adrenal, liver, and lungs following multiple lines of systemic therapy. A percutaneous biopsy of a suspected liver metastasis proved nondiagnostic. Subsequently, transgastric EUS-guided biopsy was performed, which confirmed metastatic adenocarcinoma originating in the lung. Oncomine-based genomic testing detected a human epidermal growth factor receptor 2 exon 20 insertion. Trastuzumab deruxtecan was subsequently introduced, resulting in disease stabilization for 6 months. A 75-year-old man (case 2) developed bilateral pulmonary nodules and a right adrenal mass detected on positron emission tomography. Bronchoscopy failed to yield diagnostic tissue. Following careful review of cross-sectional anatomy, EUS-guided biopsy of the right adrenal gland was safely performed via the duodenal bulb, confirming metastatic squamous cell carcinoma and yielding adequate tissue for genomic testing. EUS-guided adrenal biopsy, including transduodenal sampling of the right adrenal gland, may provide tissue for histopathologic and precision oncology testing, facilitating definitive diagnoses.

Adrenal metastasis↗