Ge­nomics and Pre­ci­sion Health: Trans­form­ing Health Care in Canada

Policy - - In This Issue - Marc LePage

Since the first hu­man genome was se­quenced in the early 2000s, ge­nomics—the sci­ence that aims to de­ci­pher and un­der­stand the en­tire ge­netic in­for­ma­tion of an or­gan­ism—has had im­mea­sur­able im­pacts in the health sec­tor. Ge­nomics is now driv­ing a revo­lu­tion in pre­ci­sion health—an ap­proach that is in­creas­ingly em­ployed in health-care set­tings and stands to im­prove the lives of mil­lions of Cana­di­ans.

For gen­er­a­tions in New­found­land and Labrador, seem­ingly healthy young men were struck by a mys­te­ri­ous af­flic­tion that would ap­pear sud­denly and kill them in their 20s and 30s. They would, quite lit­er­ally and in­ex­pli­ca­bly, drop dead of sud­den car­diac ar­rest.

This re­mark­able phe­nom­e­non prompted a team at Me­mo­rial Univer­sity in St. John’s to in­ves­ti­gate a pos­si­ble ge­netic ex­pla­na­tion for what had been dubbed col­lo­qui­ally a “fam­ily curse.” With sup­port from Genome Canada and Genome At­lantic, re­searchers iden­ti­fied and pro­filed af­fected fam­i­lies and, in Fe­bru­ary 2008, pub­lished the news that they had iso­lated the gene re­spon­si­ble for ar­rhyth­mo­genic right ven­tric­u­lar car­diomy­opa­thy (ARVC).

Today, a sim­ple blood test can di­ag­nose ARVC and pa­tients with the ge­netic mu­ta­tion are pre­ven­tively im­planted with a de­fib­ril­la­tor. To date, more than 160 peo­ple in New­found­land and Labrador have been suc­cess­fully treated as a re­sult of this ge­netic test­ing. Other ARVC pa­tients have also been fit­ted with de­fib­ril­la­tors in main­land Canada, the United States, Den­mark, Ger­many, Spain, Nor­way, and in other coun­tries around the globe, pre­vent­ing count­less heart at­tacks and adding some 30+ years to the life­span of in­di­vid­u­als who re­ceive the de­vice.

This is just one ex­am­ple of how medicine is be­ing trans­formed by ge­nomics and pre­ci­sion health. Pre­ci­sion health is an ap­proach that en­ables di­ag­no­sis and treat­ment to be tai­lored based on a pa­tient’s unique ge­netic makeup. Given that ge­netic dif­fer­ences can ex­plain why some peo­ple re­spond well to cer­tain treat­ments while oth­ers do not, do­ing this sys­tem­at­i­cally in health care can be trans­for­ma­tive.

As any­one knows who has watched a tele­vi­sion med­i­cal drama—from Mar­cus Welby M.D. to House—the prac­tice of medicine is usu­ally a vari­a­tion on the clas­sic de­tec­tive pro­ce­dural. A pa­tient presents mys­te­ri­ous symp­toms, the doc­tor eval­u­ates the ev­i­dence against sus­pected cul­prits and a hope­ful course of ac­tion is adopted. Now, ge­nomics—in com­bi­na­tion with big data, pre­dic­tive an­a­lyt­ics and other ar­eas of cut­ting-edge sci­ence and tech­nol­ogy—is en­abling trained pro­fes­sion­als to sig­nif­i­cantly tele­scope the process of elim­i­na­tion, solv­ing di­ag­nos­tic mys­ter­ies at the ge­netic level with far greater speed and ef­fi­ciency, while pro­duc­ing more ac­cu­rate an­swers.

In­ter­na­tion­ally, there is a sense of ex­cite­ment about what this means for the fu­ture of medicine. The gov­ern­ment of Canada, through fund­ing for Genome Canada, has been at the fore­front of what is now a col­le­gial global com­pe­ti­tion to har­ness the trans­for­ma­tive power of ge­nomics to­ward more ef­fi­cient, ef­fec­tive and eco­nom­i­cal health care.

To this end, the fed­eral gov­ern­ment, Genome Canada, and part­ners an­nounced a $255 mil­lion in­vest­ment in ge­nomics and pre­ci­sion health re­search this Jan­uary, bring­ing new hope for Cana­di­ans liv­ing with can­cer, cys­tic fi­bro­sis, ju­ve­nile arthri­tis, child­hood asthma and other dis­eases. The re­sults of Genome Canada’s 2017 Ge­nomics and Pre­ci­sion Health com­pe­ti­tion, an­nounced by fed­eral Min­is­ter of Sci­ence Kirsty Dun­can, in­cludes a $162 mil­lion in­vest­ment through Genome Canada, the Cana­dian In­sti­tutes of Health Re­search (CIHR) and co-fund­ing prov­inces and part­ners in 15 ge­nomics and pre­ci­sion health projects across Canada, in ad­di­tion to $93 mil­lion for 10 ge­nomics tech­nol­ogy plat­forms across Canada.

One of these projects is UCAN CURE: Pre­ci­sion de­ci­sions for child­hood arthri­tis, led by Drs. Rae Ye­ung (The Hos­pi­tal for Sick Chil­dren) and Su­sanne

Benseler (Univer­sity of Cal­gary). More than 24,000 chil­dren in Canada live with painful, chronic arthri­tis. With the help of pow­er­ful drugs called bi­o­log­ics, doc­tors can dra­mat­i­cally re­duce joint in­flam­ma­tion and pain and pre­vent long-term joint dam­age. But first, doc­tors must de­ter­mine—us­ing the first ge­nomics-based, low-cost biomarker blood test—who needs bi­o­log­ics, which bi­o­logic will work best for an in­di­vid­ual child, and when the bi­o­logic can be safely stopped.

One of the chil­dren who may ben­e­fit from UCAN CURE at­tended the pre­ci­sion health an­nounce­ment with Min­is­ter Dun­can at Sick­Kids in Toronto. Aida Kelf-Kowal is nine years old and was di­ag­nosed at age five with ju­ve­nile id­io­pathic arthri­tis. She and her par­ents went through an over­whelm­ing process of trial-and-er­ror be­fore fi­nally find­ing a med­i­ca­tion that put her arthri­tis into re­mis­sion. UCAN CURE will re­duce this di­ag­nos­tic odyssey and help make sure kids like Aida re­ceive the best and most ap­pro­pri­ate med­i­ca­tion avail­able as quickly as pos­si­ble.

These break­throughs re­quire col­lab­o­ra­tion at the pol­icy level so that in­no­va­tions in ge­nomic sci­ence and pre­ci­sion health are not stymied by the chal­lenges of im­ple­men­ta­tion. In Oc­to­ber 2016, Genome Canada, the six re­gional Genome Cen­tres and CIHR co-hosted a Ge­nomics and Pre­ci­sion Health Fo­rum in Toronto, where stake­hold­ers, ex­perts and opin­ion lead­ers from Canada and around the world com­pared notes on the im­ple­men­ta­tion of ge­nomics in their health care sys­tems.

Among the valu­able take­aways from the event was the con­sen­sus that the ma­jor chal­lenges in bring­ing pre­ci­sion health to clin­i­cal set­tings are gen­er­ally pol­icy-re­lated rather than tech­ni­cal. The speed of ge­nomic se­quenc­ing is now fast and cost is drop­ping—but ma­jor chal­lenges ex­ist around data shar­ing, pri­vacy, in­fra­struc­ture and other le­gal and eth­i­cal ob­sta­cles to im­ple­men­ta­tion. We are work­ing hard with pub­lic and pri­vate part­ners to over­come these chal­lenges com­pre­hen­sively and re­spon­si­bly.

That fo­rum laid the ground­work for a pre­ci­sion health strat­egy in Canada with spe­cific rec­om­men­da­tions:

• De­velop a na­tional vi­sion for the im­ple­men­ta­tion of ge­nomics into the health care sys­tem and start with a demon­stra­tion project in a tar­geted area to pro­vide the foun­da­tion for pre­ci­sion health more broadly.

• In­cor­po­rate a health tech­nol­ogy as­sess­ment ser­vice in pub­licly funded re­search projects to en­sure a har­mo­nized and proac­tive path­way for the as­sess­ment of new tech­nolo­gies. • Es­tab­lish na­tional guide­lines for the as­sess­ment and eval­u­a­tion of ge­nomic tests to sup­port a har­mo­nized and stream­lined ap­proach to the adop­tion of ge­nomic tests by each prov­ince.

• De­velop and pro­mote the adop­tion of na­tional stan­dards for the col­lec­tion, ag­gre­ga­tion, in­te­gra­tion, stor­age and gov­er­nance of data gen­er­ated with pub­lic sec­tor funds, in align­ment with the stan­dards ar­tic­u­lated by the Global Al­liance for Ge­nomics and Health.

• Sup­port the de­vel­op­ment of ap­pro­pri­ate cur­ricu­lum and tools for the ed­u­ca­tion and train­ing of stu­dents and health care prac­ti­tion­ers to en­sure the com­pre­hen­sive and eq­ui­table use of ge­nomic tests in clin­i­cal care.

• Con­sider how el­e­ments es­tab­lished by Canada’s Strat­egy for Pa­tient-Ori­ented Re­search and re­lated ini­tia­tives and plat­forms can be in­te­grated into ex­ist­ing health care de­liv­ery and re­search struc­tures.

• De­velop a white pa­per to ar­tic­u­late the roles and re­spon­si­bil­i­ties of each stake­holder in­volved in health care sys­tem trans­for­ma­tion and help strengthen the pre­ci­sion health re­search and de­liv­ery con­tin­uum.

Genome Canada is con­tribut­ing to a na­tional ef­fort on pre­ci­sion health in nu­mer­ous ways, in­clud­ing spear­head­ing a demon­stra­tion pro­gram fo­cused on pa­tients with rare ge­netic dis­ease—a group of ap­prox­i­mately one mil­lion Cana­di­ans, more than 50 per cent of whom are chil­dren. This ini­tia­tive builds on sev­eral past and cur­rent projects and is de­signed to tackle ques­tions of gov­er­nance frame­works, data stan­dards and more.

Our fo­cus on rare dis­eases will help de­velop the in­fra­struc­ture, skills, ex­pe­ri­ence and part­ner­ships es­sen­tial for the im­ple­men­ta­tion of a na­tion­ally har­mo­nized pro­gram that lever­ages Canada’s bur­geon­ing rep­u­ta­tion as a global leader in pe­di­atric pre­ci­sion health. In­ci­den­tally, Dr. Brendan Wren—one of Bri­tain’s lead­ing ex­perts on the ge­nomics of in­fec­tious

and trop­i­cal dis­eases and a mem­ber of Ge­nomics and Pre­ci­sion Health com­pe­ti­tion in­ter­na­tional peer re­view com­mit­tee—said of Canada’s re­search ex­cel­lence in the field, “If I were ill, par­tic­u­larly if I had a sick child, I would want to live in Canada rather than any­where in the world.”

The prom­ise of pre­ci­sion health is a fu­ture where the best health care avail­able meets per­sonal needs with im­proved out­comes and strong eco­nomic growth for Canada. This coun­try has the po­lit­i­cal will to drive in­no­va­tion in health care de­liv­ery, in­clud­ing an in­creas­ing fo­cus at the provin­cial level, a thriv­ing ge­nomics re­search cul­ture, an eth­ni­cally di­verse pop­u­la­tion and a univer­sal health care sys­tem that make us ex­cep­tion­ally well-placed to ad­vance the pre­ci­sion health revo­lu­tion. That vi­sion will re­quire lever­ag­ing our world-class knowl­edge and ex­per­tise, cap­i­tal­iz­ing on the unique as­sets of the Cana­dian health care sys­tem and ge­nomics en­ter­prise, and en­sur­ing ge­nomic-based in­no­va­tions can be ef­fec­tively im­ple­mented for the ben­e­fit of peo­ple here and the world over.

Genome Canada Photo

Aida Kelf-Kowal, 9-years old, has ju­ve­nile id­io­pathic arthri­tis. She was at Sick­Kids ear­lier this year, along with Min­is­ter of Sci­ence Kirsty Dun­can, Genome Canada, the Cana­dian In­sti­tutes of Health Re­search and part­ners, to cel­e­brate a ma­jor fed­eral...

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