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  3. Skilled clinical history-taking and physical examination remain essential as the basis of the disease diagnosis and management,

Skilled clinical history-taking and physical examination remain essential as the basis of the disease diagnosis and management,

admin2019-11-30  1
问题     Skilled clinical history-taking and physical examination remain essential as the basis of the disease diagnosis and management, aided by investigations such as radiological or biochemical tests. Technological advances over the past few decades mean that such investigations now can be refined, or even replaced in some cases, by the measurement of genetic or genomic biomarkers. The molecular characteristics of a disorder or the genetic make-up of an individual can fine tune a diagnosis and inform its management. These new capabilities, often termed ‘stratified (分层的) ’ or ‘personalized’ medicine, are likely to have profound effect on the practice of medicine and service delivery.
    Genetic medicine, which uses genetic or genomic biomarkers in this way, has, until recently, been the province of a small minority of specialized physicians who have used it to diagnose or assess risk of inherited disease. Recognition that most disease has a genetic component, the development and application of new genetic tests to identify important disease subsets and the availability of cost-effective interventions mean that genetic medicine must be integrated more widely across healthcare services. In order to optimize benefit equitably across the population, physicians and services need to be ready to change and adapt to new ways of working.
    Perhaps the greatest challenge is to ensure the readiness of physicians to use these genomic technologies for maximum effect, so that genetic medicine is incorporated into mainstream specialties. For some clinicians, particularly those involved in clinical research, these advances are already a reality.
    However, a sizable majority do not yet recognize the relevance of genetics for their clinical practice, perceiving genetic conditions to be rare and untreatable. Maximizing genomic opportunities also means being aware of their limitations, media portrayals that indicate that genetic information gives clear-cut answers are often unrealistic. Indeed, knowing one’s entire genomic sequence is not the crystal ball of our future that many hope it to be, and physicians will need to be more familiar with what is hype (鼓吹) and what is reality for the integration of genetics into mainstream medicine to be successful.
    Finally, both the professional and public should have a realistic view of what is possible. Although the discovery of genetic risk factors in common diseases such as heart disease and cancer has led to important insights about disease mechanisms, the predictive power of individual genetic variants is often very low. Developments in bioinformatics will need to evolve considerably before the identification of a particular combination of genetic variants in an individual will have clinical utility for them.
The future of the genomic technologies, for the most part, lies in________.
选项 A、the greater potential of treating rare diseases
B、the greater efforts in the relevant clinical research
C、the greater preparedness of the physicians to employ them
D、the greater publicity of their benefits in the media portrayals
答案B
解析 推理题。从第三段可知，基因医学最大的挑战是医生使用它的程度，在临床医学中有过研究的人会接受该技术的先进性，但是很大一部分人不了解，仍然会认为基因病是罕见的、不可治愈的。基因医学的前景还需要认知它的局限性(limitations)，即使知道了人类的全部基因组也不见得能将未来看得一清二楚。因此，基因医学的前景并非要宣传它的优势(D选项)，也不是治疗罕见疾病的潜力(A选项)。大夫使用这种技术的意愿(A选项)也取决于对它的认知和了解，那么，一切工作都基于临床中相关性的研究。故本题最佳答案为B选项。
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