Genomics in routine clinical care: what does this mean for primary care?
| العنوان: | Genomics in routine clinical care: what does this mean for primary care? |
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| المؤلفون: | Judith Hayward, Val Davison, Imran Rafi, Michelle Bishop |
| المصدر: | British Journal of General Practice. 67:58-59 |
| بيانات النشر: | Royal College of General Practitioners, 2017. |
| سنة النشر: | 2017 |
| مصطلحات موضوعية: | Genomics, Disease, Gene mutation, Bioinformatics, Genome, 03 medical and health sciences, Rare Diseases, 0302 clinical medicine, Breast cancer, Neoplasms, medicine, Humans, Genetic Predisposition to Disease, Genetic Testing, 030212 general & internal medicine, Primary Health Care, business.industry, Editorials, Cancer, Genomic signature, Precision medicine, medicine.disease, United Kingdom, 030220 oncology & carcinogenesis, Family Practice, business |
| الوصف: | > ‘ The NHS will need to be ready to use genomics as part of its routine care 1 But how will genomics impact on primary care and what is needed for primary care to be genomics-ready? While genetics focuses on DNA coding for single functional genes, genomics is the study of the entirety of our DNA, recognising the crucial regulatory role of non-coding DNA and the complex interactions between multiple genes and the environment. Genomics and variation is fundamental to precision medicine which, through its four components of predictive, preventive, personalised, and participatory medicine, aims to promote wellness as well as to more precisely treat disease. The transformational 100 000 Genomes Project funded by the Department of Health aspires to kick-start a UK genomics industry and set up a genomics medicine service within the NHS.1 GPs will play an important role within a genomics medicine service both in supporting patients through diagnostic and treatment processes and in using knowledge of genomics for disease prevention. There are 356 000 new cancer cases diagnosed in the UK each year.2 Testing of both the patient’s own genetic makeup (‘germline’ DNA) and the tumour DNA (‘somatic’ testing) are important here. A tumour’s genomic signature may be used to make a precise diagnosis, enabling more accurate prognosis and better tailored treatment. Examples include Herceptin® (trastuzumab) in breast cancer treatment and BRAF inhibitors in malignant melanoma. Treatment can also be based on germline genomic information; PARP inhibitors are more efficacious in the treatment of ovarian cancer in individuals who carry a BRCA gene mutation. Cancer follows … |
| تدمد: | 1478-5242 0960-1643 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8574d134e18cac1f674b3fe7d7b3f04dTest https://doi.org/10.3399/bjgp17x688945Test |
| حقوق: | OPEN |
| رقم الانضمام: | edsair.doi.dedup.....8574d134e18cac1f674b3fe7d7b3f04d |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 14785242 09601643 |
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