HGM 2011 - Dubai, UAE

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Ingrid Winship

Title: CAN GENETIC INFORMATION REDUCE THE BURDEN OF DISEASE?

Genetic data will influence clinical health services and preventive health strategies increasingly in the future. Translating rapidly from biomedical research to health care is an increasing understanding of sequence variation in the human genome. This is facilitated by more accessible, accurate and affordable technologies for genotyping, along with the recognition of the need for informatics expertise to interpret the significance of these changes for human health. Enhanced opportunities now exist to use genetic technologies in a preventive approach to healthcare, in order to reduce the burden of disease. The information generated by whole genome sequencing (WGS) needs correlation with accurate phenotypic data, to provide an understanding of pathogenicity in this context, and the use and utility of genotyping in clinical practice. The combination of better phenotype and genotype data will give new insights into human health and create the platform for preventive strategies, within individuals, families and communities. This creates the basis of precision (or personalized) medicine; likewise, pharmacogenomics is rapidly moving into mainstream medicine. In the past two decades, genetic technologies were used primarily within the pediatric and prenatal approach to rare single gene disorders. Genetics is no longer in the domain of single gene disorders. The International Cancer Genome Consortium is mapping sequence variants across tumor types, putting somatic genetic changes at the centre of cancer diagnosis and treatment for the future.
We have established a clinical genetic service for adults in a large general hospital, where the focus of genetic information is on prevention of symptoms and complications of predictable later onset disorders. The practice of preventive genetics in hereditary breast and colon cancer, with the ability to assess and manage risk, has already reduced the incidence of malignancy in some subsets of these common cancers. We have extended the preventive approach to many other disorders, including sudden cardiac death (SCD). Hereditary heart disease may be preventable if detected early. Use of the molecular autopsy?, genetic investigation of SCD, may provide an explanation for that death. Risk assessment provides not only information, but the opportunity to offer surveillance and management strategies in the prevention of further untimely death in families. Multidisciplinary and interdisciplinary
collaborations between clinical geneticists, medical and surgical experts, genetic counselors, and molecular pathologists enable the management of the proband and the family.
At the same time, the Direct- to-Consumer (DTC) market is growing internationally, raising issues about easy access to extensive health information, its potential use and utility, as well as privacy, ownership, and accreditation. Supportive care through genetic counseling is an essential pillar of genetic medicine; its role in DTC cannot be underestimated. The mainstreaming of genetic technologies into health care systems raises a range of ethical, legal, cultural, spiritual, psychological and social issues. An integral part of the inclusion of DNA analysis in a clinical setting is the provision of advocacy for patients in our care, so that the benefits of technology outweigh any potential for harm.

Sheikh Hamdan Bin Rashid Al Maktoum
Award for Medical Science

Human Genome Organisation

Centre for Arab Genomic Studies