Utility of genetic determinants of lipids and cardiovascular events in assessing risk

Holmes, Michael V.; Harrison, Seamus C.; Talmud, Philippa J.; Hingorani, Aroon D.; Humphries, Steve E.

doi:10.1038/nrcardio.2011.6

Cited by 41 publications

(30 citation statements)

References 158 publications

(101 reference statements)

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“…Alongside the work on cancer, similar considerations are currently taking place for screening for other common chronic conditions such as cardiovascular disease [6]. Coupled with the widely expected rapid advances in technologies that will allow quicker, more economical and wider genome sequencing [7], these developments mean that we should consider the offer of a ‘package' of risk testing for a number of common diseases, accompanied by advice appropriate to each individual's level of risk.…”

Section: Fundamental Policy Issuesmentioning

confidence: 99%

Stratified Cancer Screening: The Practicalities of Implementation

Dent

Jbilou²,

Rafi³

et al. 2013

Public Health Genomics

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Background: Improving understanding of the genetic basis of disease susceptibility enables us to estimate individuals' risk of developing cancer and offer them disease prevention, including screening, stratified to reflect that risk. Little attention has so far been given to the implementation of stratified screening. This article reviews the issues that would arise in delivering such tailored approaches to prevention in practice. Results: Issues analysed include the organisational context within which implementation of stratified prevention would occur, how the offer of screening would be made, making sure consent is adequately informed, how individuals' risk would be assessed, the age at which risk estimation should occur, and the potential use of genetic data for other purposes. The review also considers how management might differ depending on individuals' risk, how their results would be communicated and their follow-up arranged, and the different issues raised by modification of an existing screening programme, such as that for breast cancer, and the establishment of a new one, for example for prostate cancer. Conclusion: Stratified screening based on genetic testing is a radically new approach to prevention. Various organisational issues would need to be considered before it could be introduced, and a number of questions require further research.

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Section: Fundamental Policy Issuesmentioning

confidence: 99%

Stratified Cancer Screening: The Practicalities of Implementation

Dent

Jbilou²,

Rafi³

et al. 2013

Public Health Genomics

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“…Koroner arter hastalığında genetik testlerin yaygınlaşması ve kolay ulaşılabilir olması bireylerin genetik risk skorlarını bilmeyi "sağlığının kontrolünü ele alma" olarak algılayabileceklerini göstermektedir (30). İdeal olarak öngörüsel genetik testlerin ileride hastalığı geliştirip geliştirmeme kriterine göre kişileri hastalık-pozitif ve hastalık-negatif olarak ayırması beklenmektedir (31).…”

Section: Genom Boyu İlişkilendirme çAlışmaları (Gwas)unclassified

Coronary artery disease from a perspective of genomic risk score, ethical approaches and suggestions

Ağırbaşlı¹,

Ülman²

2012

Anadolu Kardiyol Derg

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As a leading cause of mortality, coronary artery disease is on the focus of genetic research as a complex trait. Although predictive genetic testing for cardiovascular diseases is on the counter, it is still hard to aggregate information from multiple genetic variants, environmental factors and family history into a single score. Every susceptibility allele provides small contribution to disease formation. Biomarkers play a role in various metabolic pathways. Genetic information and data depend heavily on probabilities. This should be clearly explained by genetic counselor to the patient and relatives who are looking for certain answers. Presence of susceptibility alleles can be a source of anxiety and it may result as a reduced self-confidence in ability to change health behavior. Complex diseases set a new stage to study novel techniques that can elucidate interactions among genetic, environmental and ethnic factors. The cookbook approach to treat a complex disease can often be misleading. Future studies may provide personalized information, which can improve the outcome of standardized treatments. As knowing one's own genetic risk is becoming a task for the responsible individual, it surely will add new challenges to ethical framework. Publicly marketing genetic tests for complex diseases raises ethical concerns. To avoid discriminatory use of genetic information; genetic risk scoring, therapeutic process, ethical policies must have a multifaceted progress. In this review, we summarized the attempts to resolve ethical issues related to genetic testing in complex diseases to resolve patient autonomy with individual responsibility and to aim the patient beneficence and confidentiality. (Anadolu Kardiyol Derg 2012; 12: 171-7)

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“…1 -3 In fact, genomic investigation in patients with atherosclerotic coronary artery disease has demonstrated only a minor ability to improve the prediction of this disease beyond that available from a simple collection of clinical information, such as the blood lipid levels and family history. 2,4 This raises the question of why information from the sequenced human genome has not led to more concrete advances in diagnosis and therapy of human disease. This editorial will outline briefly additional complicating factors that underlie the many challenges involved in moving from a descriptive picture of the genome to an understanding and possible therapy of human disease.…”

mentioning

confidence: 99%