Genoma i exoma clínic (WGS i WES): retorn dels resultats genètics no sol·licitats, quan, com i per què?
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Gemma Marfany Nadal
In recent years, the costs in budget and time required for massive whole genome
and exome sequencing (WGS and WES) have dropped to unprecedented levels,
making single genome analysis feasible. Currently, public and private clinicians
(for instance, in oncology) can address the exhaustive genetic diagnosis of a single
patient. Nonetheless, while identifying the pathogenic mutations responsible
for a particular genetic disorder, incidental results on genetic variants relevant
to health (e.g. risk or susceptibility variants associated with colon or breast
cancer, Alzheimer's disease or autoimmune disorders) may also be revealed.
What should we do with these unsolicited incidental results? What considerations
should be weighed or under what circumstances should we consider
them? What are the bioethical premises that challenge personalized medicine?
and exome sequencing (WGS and WES) have dropped to unprecedented levels,
making single genome analysis feasible. Currently, public and private clinicians
(for instance, in oncology) can address the exhaustive genetic diagnosis of a single
patient. Nonetheless, while identifying the pathogenic mutations responsible
for a particular genetic disorder, incidental results on genetic variants relevant
to health (e.g. risk or susceptibility variants associated with colon or breast
cancer, Alzheimer's disease or autoimmune disorders) may also be revealed.
What should we do with these unsolicited incidental results? What considerations
should be weighed or under what circumstances should we consider
them? What are the bioethical premises that challenge personalized medicine?
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How to Cite
Marfany Nadal, Gemma. “Genoma i exoma clínic (WGS i WES): retorn dels resultats genètics no sol·licitats, quan, com i per què?”. Treballs de la Societat Catalana de Biologia, vol.VOL 67, pp. 33-37, https://raco.cat/index.php/TreballsSCBiologia/article/view/322521.
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