Personalised medicine: a treatment for each patient

Per­son­al­ised medi­cine has already been used for around 20 years to treat patients by choos­ing the most effect­ive med­ic­a­tions based on genet­ic tests. Ori­gin­ally, the dis­cip­line was developed for can­cer drugs, mak­ing it pos­sible to tar­get spe­cif­ic mech­an­isms of each tumour.

You study the way per­son­al­ised medi­cine is being rolled out in France. What’s in it for patients?

We know now that cer­tain hered­it­ary gene muta­tions have bad pro­gnoses for can­cer. Two such examples are BRCA1 and BRCA2, which are ovari­an and breast can­cer muta­tions. With per­son­al­ised treat­ments that tar­get these muta­tions, the pro­gnos­is has got­ten bet­ter. Ten years ago, thirty per­cent of women with ovari­an can­cer and the BRCA1 muta­tion had a sur­viv­al rate of three years. Now, that has increased to sev­enty per­cent. Per­son­al­ised medi­cine is no longer a pro­spect­ive field; it is already here!

It’s no longer a ques­tion of treat­ing small groups of patients. Onco­lo­gists need to know not only that these treat­ments exist, but also how to pre­scribe the test – and that’s very import­ant. A dia­gnos­is can require genet­ic coun­selling, because we have to look for the muta­tion in the patient’s gen­ome, not just in the tumour.

Genet­ic coun­selling con­sulta­tions pre­vent the patient from badly com­mu­nic­at­ing extremely import­ant inform­a­tion to oth­ers who could be impacted, like sis­ters, uncles, cous­ins, etc. This involves vari­ous health­care pro­fes­sion­als: genet­i­cists, onco­lo­gists, molecu­lar bio­lo­gists, patho­lo­gists, and so on. Should a muta­tion be detec­ted, the mul­tidiscip­lin­ary team put in place will per­son­al­ise the care for the patient and for his family.

What do you need to improve this service?

We need new tools! Includ­ing those for med­ic­al decision-mak­ing, as well. We need bioin­form­at­ics solu­tions so that we can ana­lyse genet­ic sequences, sort through detec­ted vari­ations and isol­ate those that have bio­lo­gic­al sig­ni­fic­ance – and more!

Even if we don’t identi­fy muta­tions for which med­ic­a­tion is avail­able in phar­ma­cies, there may already exist med­ic­a­tion that is author­ised for a dif­fer­ent organ. Per­haps then that can be used for one of the detec­ted vari­ations. In oth­er cases, med­ic­a­tion is avail­able in a clin­ic­al tri­al or through tem­por­ary author­isa­tion. Or our patient could be eli­gible for an AcSé pro­gram [to access innov­at­ive ther­apies] with the Nation­al Insti­tute of Can­cer (INCA), or a ‘bas­ket study’. Find­ing inform­a­tion on these dif­fer­ent options can be difficult.

Hence, we need smart solu­tions to tell us wheth­er a genet­ic alter­a­tion can be tar­geted by a treat­ment and to help us dir­ect the patient towards the best treat­ment pro­tocol for them.

But per­son­al­ised medi­cine goes bey­ond oncology…

Abso­lutely. It is now being used by rheum­at­o­logy and car­di­ology spe­cial­ists. Car­di­ac prob­lems (car­di­omy­opath­ies), which we thought were unex­plained, are no longer a mys­tery. We now know that cer­tain genes are respons­ible for sud­den deaths of athletes.

For com­mon ill­nesses, such as dia­betes, we have found risk mark­ers. Although we talk a lot about per­son­al­ising health­care for treat­ment, this kind of approach can also be used for screen­ing and pre­ven­tion. Genet­ic mark­ers indic­ate the risk of devel­op­ing breast can­cer or dia­betes. Very soon, they will be part of com­mon med­ic­al practice.

To bene­fit from this, will we all need to have our gen­omes sequenced?

No, this kind of wide­spread sequen­cing is the domain of 23andMe [an Amer­ic­an indi­vidu­al genet­ic test­ing com­pany]. I’m talk­ing about medi­cine. In real terms, we cur­rently have 100 action­able genes. In oth­er words, we can act on these genes, either with treat­ment or with life­style changes for pre­ven­tion. These are the ones that we need to look out for. We have no sys­tem­ic genet­ic test­ing for the gen­er­al pub­lic. That’s the truth. How­ever, depend­ing on your med­ic­al his­tory, you might be able to be tested.

The France Gen­om­ic Medi­cine Plan aims to sequence 200,000 gen­omes. The Brit­ish have already done 150,000, but only to meas­ure the bene­fit of sequen­cing the gen­er­al pub­lic. If we dis­cov­er that this approach is bene­fi­cial from a medico-eco­nom­ic per­spect­ive, I’m all for it. Right now, we are simply look­ing into its poten­tial utility.

So, can it be said that everything is ready?

No. If we take the example of France, we need genet­ic test­ing to be covered by Social Secur­ity [the French pub­lic health care sys­tem]. Nowadays, it is done by com­plex, innov­at­ive sys­tems, which means that not every­one can access it. If a breast can­cer patient needs genet­ic test­ing, there is no reas­on why it should not be covered by Social Secur­ity! This is no longer an innov­at­ive treat­ment: one in three women needs it.