Breaking new ground in the fight against cancer

When a friend devel­oped can­cer some 20 years ago, bio­chemist Randy Scott began explor­ing the poten­tial of genomics, the study of genes, to under­stand the dis­ease. He devel­oped the ground-break­ing Onco­type DX tests designed to trans­form treat­ment deci­sions of cer­tain can­cers¹. More than a mil­lion peo­ple world­wide have now received the Onco­type DX test².

Breast cancer

Cen­tral to the genomics rev­o­lu­tion trans­form­ing can­cer care, Onco­type DX test­ing, among oth­er things, iden­ti­fies gene expres­sion in can­cer cells^3,4. Take breast can­cer for exam­ple. So-called adju­vant, or addi­tion­al, ther­a­py is a key part of treat­ment. This can include chemother­a­py after surgery when there may be uncer­tain­ty about whether or not the oper­a­tion has total­ly erad­i­cat­ed the tumour⁵.

The prob­lem is that not all women ben­e­fit from chemother­a­py⁶. Dr Richard Sim­cock, who has been a con­sul­tant clin­i­cal oncol­o­gist at the Sus­sex Can­cer Cen­tre since 2004, says: “We can now more accu­rate­ly pre­dict which women are going to ben­e­fit. The Onco­type DX test helps reduce the guess­work. More impor­tant­ly, I can iden­ti­fy those women who are not going to ben­e­fit, spar­ing them the tox­i­c­i­ty of chemother­a­py.”

Chemother­a­py side effects include fatigue, nau­sea and hair loss⁷. It is not only patients who ben­e­fit from this trans­for­ma­tion­al advance. A recent study by the East Anglia Med­ical School report­ed that chemother­a­py costs the NHS more than £248m per year⁸.

What sur­prised researchers and doc­tors was the scale of the impact of the Onco­type DX test. In a land­mark tri­al with 10,000 patients in the US, Cana­da, Ire­land and South Amer­i­ca, report­ed in The New Eng­land Jour­nal of Med­i­cine, researchers found that 70% of women with the most com­mon type of breast can­cer show no ben­e­fit from chemother­a­py⁹.

The Onco­type DX breast can­cer test is not like a genet­ic test that maps a person’s genet­ic pro­file. The Nation­al Insti­tute of Health and Care Excel­lence (NICE) explains: “It looks at genes in a patient’s breast tumour to under­stand how these genes inter­act and influ­ence the tumour’s behav­iour¹⁰.” This is crit­i­cal because every tumour is unique: the more doc­tors know about each one, the more like­ly they are to be able to treat it effec­tive­ly.

Mar­ket­ed by a world leader in can­cer diag­nos­tics, Exact Sci­ences, the breast can­cer test is part of an exten­sive port­fo­lio of tests aim­ing to enable the deliv­ery of per­son­alised care across the can­cer con­tin­u­um.’

Colon cancer

Exact Sci­ences’ prod­ucts include Colo­guard, a stool DNA-based col­orec­tal can­cer screen­ing test for aver­age-risk indi­vid­u­als who are 45 or old­er. Detect­ing dis­ease at an ear­ly stage when it is eas­i­er to treat, Colo­guard analy­ses stool sam­ples for 10 genet­ic mark­ers and blood in the stool. Report­ed to have been used by more than 8 mil­lion peo­ple, the sam­ple col­lec­tion is car­ried out in the pri­va­cy of people’s homes¹¹.

Minimal residual disease

Exact Sci­ences is devel­op­ing a test to iden­ti­fy so-called ‘min­i­mal resid­ual dis­ease’ (MRD), which are can­cer cells that remain in the body after treat­ment. The num­ber of such cells may be so small that they do not cause any phys­i­cal signs or symp­toms.

Any remain­ing can­cer cells in the body can become active and start to mul­ti­ply, caus­ing a relapse of dis­ease. Detect­ing MRD from a blood sam­ple may indi­cate that the treat­ment was not com­plete­ly effec­tive or that the treat­ment was incom­plete or that the can­cer cells became resis­tant to the med­ica­tions used. Exact Sci­ences esti­mates that such infor­ma­tion may be used to guide adju­vant ther­a­py deci­sions and/or to mon­i­tor can­cer recur­rence, in con­junc­tion with oth­er clin­i­co­patho­log­i­cal find­ings, pro­vid­ing more than 12 mil­lion test­ing oppor­tu­ni­ties in the US alone.

Multi-cancer early detection

Too often, can­cer is detect­ed too late. Cur­rent screen­ing can find some types of can­cer – breast, colon, cer­vi­cal and lung – but these make up less than a third of all can­cers¹³. Exact Sci­ences is devel­op­ing a new kind of blood test, Mul­ti-Can­cer Ear­ly Detec­tion (MCED), to detect can­cer ear­ly, when it is at its most treat­able stage.

In future, MCED tests may become as stan­dard as rou­tine blood pres­sure test­ing and iden­ti­fy can­cer in mil­lions of patients long before symp­toms occur. They may even con­sign late can­cer detec­tion to his­to­ry.

Exact Sci­ences is fur­ther devel­op­ing the MCED test orig­i­nal­ly devel­oped by Thrive Ear­li­er Detec­tion, one of eight com­pa­nies it has acquired in the last three years to posi­tion itself as a leader in the rapid­ly expand­ing world of genomics can­cer test­ing.

In 2020, Thrive and researchers from Johns Hop­kins Uni­ver­si­ty announced that a mul­ti-can­cer blood test used to screen more than 9,000 women had detect­ed 26 undi­ag­nosed can­cers¹².

Working across the cancer continuum

Trans­form­ing can­cer out­comes requires a com­pre­hen­sive suite of tests and treat­ments for all patients before, dur­ing, and after a diag­no­sis. Exact Sci­ences’ vision is to fuel the future and advance can­cer care for patients at all stages of the dis­ease, work­ing with oth­ers to put all these pieces togeth­er and into action.

Hered­i­tary can­cer assess­ments will give as many peo­ple as pos­si­ble the pow­er to know their per­son­al risk for can­cer screen­ing tests for more can­cers so they can be detect­ed ear­ly when they are more treat­able. Ther­a­py guid­ance tests to help patients and health care providers select the right course of treat­ment for their spe­cif­ic can­cer and to avoid over-and under-treat­ment.

Min­i­mal resid­ual dis­ease test­ing is cur­rent­ly in devel­op­ment and is designed to assess whether a treat­ment has removed the can­cer and mon­i­tor whether the can­cer is com­ing back on a high­ly per­son­alised, can­cer-by-can­cer basis.

Personalised versus precision medicine

The pace of sci­en­tif­ic progress is daz­zling, but Sim­cock stress­es that tra­di­tion­al holis­tic care is as impor­tant as ever. He says: “I think that some peo­ple con­flate ‘per­son­alised’ med­i­cine’ with ‘pre­ci­sion med­i­cine.’ Mak­ing a clin­i­cal deci­sion pure­ly on the basis of whether a per­son has a par­tic­u­lar muta­tion is not very per­son­al. It should not dis­tract us from the holis­tic care of that indi­vid­ual. The key here is not what is the mat­ter with them but what mat­ters to them. But we need pre­ci­sion med­i­cine to deliv­er ‘per­son­alised’ med­i­cine.”

Andrew Paramore, direc­tor of med­ical affairs at Exact Sci­ences, agrees. He says: “Peo­ple do get ‘wowed’ by the sci­ence and ref­er­ences to ‘per­son­alised’ and ‘pre­ci­sion,’ but what we’re try­ing to do is to pro­vide suf­fi­cient infor­ma­tion to enable patient and physi­cians to make informed deci­sions about their treat­ment approach and like­ly out­come.”

To find out more, please vis­it exactsciences.co.uk

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2. Exact Sci­ences. Over 1 Mil­lion Patients Test­ed; Data Onfile. 2019.
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