Current genetic medicine reports最新文献

Purpose of review: "Healthy aging" is the state of the aging process in which a person can maintain physical, social, mental, and spiritual wellness. This literature review presents an overview of recent studies that explore how biological, social, and environmental factors contribute to healthy aging.

Recent findings: A number of genome-wide association studies have been conducted recently for traits related to healthy aging, such as frailty index, healthspan, muscle strength, and parental longevity, leading to the discovery of dozens of genetic variants associated with these traits. In parallel, associations between healthy aging measures and multiple non-biological environmental elements have been identified as key moderators of the aging process, indirectly influencing day-to-day homeostatic processes.

Summary: Individual variations in lifespan and healthspan are influenced by genetic factors, with a heritability of ~ 25% in developed countries. Non-genetic risk variance is explained in part by social, cultural, and lifestyle conditions. Altogether, these factors contribute to a multifaceted state of wellness over time, shaping individual risk to frailty and resilience during the aging process. Notably, "Blue Zone" populations, which are characterized by an abundance in healthy lifestyles across generations, share some commonalities regarding determinants of health.

Purpose of review: This review describes the clinical features of the major adult-onset genodermatosis-associated hereditary cancer predisposition syndromes. Diagnosis of these conditions can be challenging due to a wide range of clinical features, varied presentations within families and the involvement of multiple medical specialities.

Recent findings: By emphasising the cutaneous and other non-malignant features, we aim to alert clinicians from all specialities to clues in the clinical history which should prompt consideration of a genodermatosis-associated hereditary cancer predisposition syndrome. In recognition of the move towards remote (telephone or video) appointments since the Covid-19 pandemic, we propose criteria which could be used by Cancer Genetics services to triage patients for in-person consultations in order to examine for signs of genodermatosis.

Summary: Although individually rare, familiarity with these conditions amongst genetic and non-genetic clinicians is important as early diagnosis provides an opportunity to implement risk-reduction measures prior to a cancer diagnosis.

Purpose of review: Advances in genomic medicine have the potential to revolutionise cancer patient care by driving forwards the clinical practice of precision oncology. This review aims to outline how genomic medicine advances may alter the care of cancer patients and their families over the next 10 years.

Recent findings: The translation of oncogenomic advances into the clinical environment will likely be facilitated by the increasing availability of next-generation sequencing technologies and the increasing genomic literacy of healthcare professionals. The implementation of the centralised, nationwide NHS Genomic Medicine Service promises to improve equity of cancer care and to facilitate personalisation of almost every stage of the care pathway, from informing population screening and how we diagnose cancer to delivering prognoses and surveillance. Advances in cancer pharmacogenomics, and other "omics" technologies, have a tremendous potential to optimise patient care. Genomic medicine advances will also enhance the care offered to cancer patients' families.

Summary: Genomic medicine advances are likely to transform almost every aspect of a cancer patient's care pathway. Cancer care will profoundly improve over the next decade, increasing UK cancer survival rates and improving patient outcomes.