aportes a la gestión necesaria para la sustentabilidad de la SALUD PÚBLICA como figura esencial de los servicios sociales básicos para la sociedad humana, para la familia y para la persona como individuo que participa de la vida ciudadana.
domingo, 28 de diciembre de 2014
Genetic counsellors and genomic counselling | Genomethics
Genetic counsellors talk patients through implications of findings and advise them on how to share findings with family. Credit: Anthea Sieveking , Wellcome Images
The genomic era is upon us. From the Government’s pledgeto sequence 100,000 genomes to the launch of 23andMe, a private company that can offer personal genotyping for £125, having your genome sequenced has become a very accessible option. Millions of us will be able to see the three billion chemical bases that encode the instructions for everything we are and everything we will be. The big question now is, can we handle this much data?
Genetic testing, where we look at a small section of DNA known to be linked to a specific condition, is already widely used by the NHS for diagnosis of illness with a genetic basis. This can be an emotional moment in a patient’s life for many reasons. With genetic conditions, there is a family context to consider; patients may have lived-experience of seeing a family member suffer through the same condition and often patients are worried about passing on conditions to their children.
In clinical genetics, results of genetic tests are communicated by clinical geneticists and genetic counsellors and both are available to talk a patient through the implications of the findings and provide advice on how a patient can share those findings with their family members.
Currently there are just under 300 genetic counsellors working in the UK, where thousands of genetic tests are being carried out in clinics each year. The number of tests will only increase as we understand more of what our DNA has to tell us about disease and as the cost of sequencing continues to fall. There’s a clear need to iincrease the number of genetic counsellors and to train a workforce of doctors and nurses who will increasingly encounter genetic data.
There’s another crucial shift that’s needed: a move from genetic counselling to genomic counselling. The difference is one of scale. The amount of information contained in our genome is enormous; there are potentially thousands of results that could be returned and interpreting these results is a process that is fraught with uncertainty, particularly since not all disease indicators in our genetics will necessarily lead to the development of that disease. What out of this mountain of information should be communicated to a patient and what effect could it have on them?
Existing genetic counselling models will be a strong starting point for genomic counselling but capacity and training will be an issue. Explaining genomic results requires knowledge of bioinformatics, sequencing, data interpretation and visualisation as well as ethical, legal and social issues. It may be that genomic counselling becomes a distinct profession, or that genetic counsellors take a central role in training health practitioners in the technical and empathetic skills required.
How this need will be filled remains to be seen but what is certain is that health services and genetic counsellors need to begin this discussion now to prepare for a future that is very close at hand.
ver historia personal en: www.cerasale.com.ar [dado de baja por la Cancillería Argentina por temas políticos, propio de la censura que rige en nuestro medio]//
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