Incorporating functional genomics into the pathology-supported genetic testing framework implemented in South Africa: A future view of precision medicine for breast carcinomas

Christowitz, Claudia; Olivier, Daniel W.; Schneider, Johann W.; Kotze, Maritha J.; Engelbrecht, Anna-Mart

doi:10.1016/j.mrrev.2024.108492

Cited by 2 publications

References 80 publications

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Incorporating familial risk, lifestyle factors, and pharmacogenomic insights into personalized noncommunicable disease (NCD) reports for healthcare funder beneficiaries participating in the Open Genome Project

De Klerk,

Van Der Merwe,

Erasmus

et al. 2024

Annals of Human Genetics

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IntroductionAn ethics‐guided decision‐making framework was developed for applying pathology‐supported genetic testing, a multifaceted pharmacodiagnostic approach that translates population risk stratification into clinical utility. We introduce this service, supported by the Open Genome Project, which aligns with the beneficence principle in personalized medicine.MethodsGenetic testing of six noncommunicable disease pathways was conducted as part of a pilot program, benchmarked against a readiness checklist for implementation of genomic medicine in Africa. Patient referral criteria were determined using healthcare funder claims data, employing the Adjusted Clinical Groupers and Resource Utilization Band risk rating structure to identify potential nonresponders to treatment.ResultsThree of the 135 doctors (2.2%) invited expressed immediate disinterest in the pilot, while 24 (17.8%) actively participated. Inherited, lifestyle‐triggered, and therapy‐related pathologies were simultaneously assessed in case reports, with special medical scheme reimbursement tariff codes applied to 25 patient referrals. The findings were used by the participating genetic counselor to select three patients for whole exome sequencing, utilizing a novel, level‐up data processing algorithm for adaptive reporting.ConclusionThis study demonstrated the implementation of genomics into an evolving workflow for patients with a history of frequent clinic visits. Eliminating the cost barrier provided valuable insights to guide future reimbursement policy decisions.

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Incorporating familial risk, lifestyle factors, and pharmacogenomic insights into personalized noncommunicable disease (NCD) reports for healthcare funder beneficiaries participating in the Open Genome Project

De Klerk,

Van Der Merwe,

Erasmus

et al. 2024

Annals of Human Genetics

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Precision Medicine Approaches in Breast Cancer: Current Strategies and Future Directions

Idris,

Deleon,

Gustafson

et al. 2024

Latest Research on Breast Cancer [Working Title]

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Precision medicine has revolutionized the approach to breast cancer treatment by leveraging molecular subtyping, biomarker identification, genomic profiling, and targeted therapies. This comprehensive review explores the significance of breast cancer subtypes—Luminal A, Luminal B, HER2+, and triple-negative—and their respective molecular characteristics and prognoses. It discusses the pivotal role of biomarkers such as HER2, estrogen receptors (ER), and progesterone receptors (PR) in predicting prognosis and therapy response. The review delves into advanced genomic profiling techniques, including next-generation sequencing (NGS) and fluorescence in situ hybridization (FISH), and their implications for personalized treatment plans. Furthermore, it highlights the potential of liquid biopsies and circulating tumor DNA (ctDNA) in non-invasive cancer diagnostics and monitoring. The integration of machine learning and artificial intelligence in predictive modeling and treatment algorithms is examined, along with the challenges posed by tumor heterogeneity and access to genomic testing. Future prospects, such as the expansion of CRISPR-based technologies and machine learning, are also discussed. Finally, strategies for integrating precision medicine into clinical practice and future innovations in the field are highlighted, emphasizing the importance of collaboration, patient education, and shared decision-making.

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Incorporating functional genomics into the pathology-supported genetic testing framework implemented in South Africa: A future view of precision medicine for breast carcinomas

Cited by 2 publications

References 80 publications

Incorporating familial risk, lifestyle factors, and pharmacogenomic insights into personalized noncommunicable disease (NCD) reports for healthcare funder beneficiaries participating in the Open Genome Project

Incorporating familial risk, lifestyle factors, and pharmacogenomic insights into personalized noncommunicable disease (NCD) reports for healthcare funder beneficiaries participating in the Open Genome Project

Precision Medicine Approaches in Breast Cancer: Current Strategies and Future Directions

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