"Long before it's in the papers"
January 28, 2015


Age of “personal genomics” coming

Sept. 20, 2007
Courtesy University of Alberta
and World Science staff

Im­ag­ine this: you vis­it your doc­tor, take ge­net­ic tests, and re­ceive a min­ia­ture hard drive con­tain­ing your per­son­al ge­nome se­quence, which is then up­loaded on­to pub­licly ac­ces­si­ble databases. 

This may sound like sci­ence fic­tion, but it’s al­ready hap­pen­ing, re­search­ers say.

And it high­lights the need to pro­ceed with cau­tion as an age of “per­son­al ge­nom­ics” ap­proaches, write a team of ex­perts in health law and eth­ics in an ar­ti­cle in the Sept. 21 is­sue of the re­search jour­nal Sci­ence.

Tim Caulfield of the Health Law In­sti­tute at the Un­ivers­ity of Al­ber­ta in Edmon­ton, Al­ber­ta in Can­a­da, and col­leagues wrote that the era will be marked by pro­jects that rep­re­sent re­search mile­stones but are al­so fraught with eth­i­cal, so­cial and clin­i­cal im­plica­t­ions.

Sci­en­tists pre­dict that with­in five years DNA se­quenc­ing tech­nolo­gies will be af­ford­a­ble enough that per­son­al ge­nom­ics will be in­te­grat­ed in­to rou­tine clin­i­cal care. Com­pa­nies are re­spond­ing by of­fer­ing their ser­vic­es for an­ces­try trac­ing, fo­ren­sics, nu­tri­tional ad­vice and re­pro­duc­tive as­sis­tance. 

It won’t be long be­fore com­pa­nies can of­fer so­cial net­work­ing ser­vic­es, si­m­i­lar to ones that now flour­ish on the World Wide Web, but cen­tred around our ge­nomes, Caulfield and col­leagues said.

Once we have our per­son­al ge­no­mic in­forma­t­ion, what will we do with it and how might this in­forma­t­ion be used out­side a med­i­cal con­text? They asked. How will physi­cians ed­u­cate pa­tients about the sig­nif­i­cance of ge­net­ic risk in­forma­t­ion? Will al­read­y-strained health-care sys­tems be able to cope with the inevita­ble in­flux of “wor­ried well” pa­tients seek­ing fol­low-up in­ves­ti­ga­t­ions for per­ceived ge­net­ic risks that in real­ity are min­i­mal?

Caulfield and his col­leagues pose these ques­tions and warn that the rou­tine genera­t­ion of in­di­vid­ual ge­nome se­quences will pose chal­lenges to our health-care sys­tem. They ar­gue that only clin­ic­ally mean­ing­ful ge­no­mic test re­sults should be used in med­i­cal decision-making—but this will re­quire clear stan­dards, mul­ti­dis­ci­pli­nary col­la­bora­t­ion and care­ful con­sid­era­t­ion of the eth­i­cal, so­cial and clin­i­cal im­plica­t­ions.

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Imagine this: you visit your doctor, take genetic tests, and then receive a miniature hard drive containing your personal genome sequence, which is subsequently uploaded onto publicly accessible databases. This may sound like science fiction, but it’s already happening, researchers say. And it highlights the need to proceed with caution as an age of “personal genomics” approaches, write a team of experts in health law and ethics in an article in the Sept. 21 issue of the research journal Science. Tim Caulfield of the Health Law Institute at the University of Alberta in Edmonton, Alberta in Canada, and colleagues wrote that the era will be marked by projects that represent research milestones but are also fraught with ethical, social and clinical implications. Scientists predict that within five years DNA sequencing technologies will be affordable enough that personal genomics will be integrated into routine clinical care. Companies are responding by offering their services for ancestry tracing, forensics, nutritional advice and reproductive assistance. It won’t be long before companies can offer social networking services, similar to ones that now flourish on the World Wide Web, but centred around our genomes, Caulfield and colleagues said. Once we have our personal genomic information, what will we do with it and how might this information be used outside a medical context? They asked. How will physicians educate patients about the significance of genetic risk information? Will already-strained health-care systems be able to cope with the inevitable influx of “worried well” patients seeking follow-up investigations for perceived genetic risks that in reality are minimal? Caulfield and his colleagues pose these questions and warn that the routine generation of individual genome sequences will pose challenges to our health-care system. They argue that only clinically meaningful genomic test results should be integrated into medical decision-making—but this will require clear standards, multidisciplinary collaboration and careful consideration of the ethical, social and clinical implications.