π Health and biotech
Personalised medicine: custom healthcare on a national scale?

Personalised medicine: a treatment for each patient

Agnès Vernet, Science journalist
On February 2nd, 2021 |
3 min reading time
Pascal Pujol
Pascal Pujol
Medical geneticist at the University hospital of Montpellier
Key takeaways
  • Customised healthcare, also called “personalised medicine”, has already become a part of medical practice.
  • Compared to generalised treatment, medication targeting specific cancer mutations has improved patient survival; as much as 40% in the case of the BRCA1 gene.
  • In the future, doctors could use genomic data to evaluate a patient’s risk of developing certain diseases.
  • Currently, around a hundred mutated genes can lead a doctor to suggest a new treatment or preventive measures.
  • According to Pascal Pujol, more digital tools are needed to aid decisions around therapeutic options for patients using their genetic data.

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.

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