Having read articles discussing how there’s a strong possibility mankind will conquer its oldest and ultimate battle – that against death – FULLCOVER talked to one of Portugal’s most renowned genetic scientists, Maria do Carmo Fonseca, about her views on this and other matters concerning medicine in the future.
Precision not genetic medicine
Her first pointis to make it clear the expression ‘genetic medicine’
isincorrect. According to Professor Fonseca, the proper term is ‘precisionmedicine’ - a concept developed by thecurrent director of the National Institutes of Health in the United States, FrancisSellers Collins. This clinical geneticist believes a greater understanding ofthe human genome will result in a new way of doing medicine, which he calls,‘precision medicine’. It allows us to identify what’s chemically wrong with ourbody and causing disease, with a precision that has up until now, beenunavailable. Such knowledge allows us to use medication that prompts the rightmolecular alteration, which, in most cases, results in a genetic change. Sogenetics underpins precision medicine.
Precisionmedicine will not resolve every health problem, but it is already saving lives,as is the case of cancer, for example. As cancer is a disease that results fromgenetic alterations, the knowledge the scientific community is gaining about thecancer genome has led various scientists to develop methods to attack thatmolecular change.
Old battles, new techniques
Newtechniques for diagnosis, such as liquidbiopsy (blood analysis),
give us aninsight into molecular changes. Professor Fonseca cites an example: "Here inthe hospital we’ve had cases of patients with advanced breast cancer who hadalready exhausted all the available treatments. We did a liquid biopsy, whichallowed us to detect specific alterations that could be treated with analternative medication, which was tried with positive results. Liquid biopsydemonstrates the advantage ofprecision medicine.”
When itcomes to eradicating cancer, she’s optimistic: "Although there are those whosay we are losing this battle, I don’t agree; we’ve been winning more and morebattles. We’re able to treat a growing number of cancers and keep people alivefor longer periods of time. I believe we’re going to see new victories;immunotherapy is a new weapon we already have, which consists of teaching ourown immunological system to destroy cancerous cells. And then, more radical isthe idea a person can live forever without their body, linking biology to themachine…”
Biology vs technology
Will humanbeings attain immortality, as the doctrine of transhumanism teaches, foreseeingthe end of death? Professor Fonsecaanswers by saying that although we keepageing, we are already adding years toour lives, and the major challenge now is how to prolong youth:
"Thescientific community and great thinkers are convinced that during thismillennium, humanity will succeed in attaining immortality. The how is still abig question mark; there are two approaches and we don’t know which one will bethe first to win the race, or if they’ll arrive together.”
ProfessorFonseca believes all the different specialisms should join forces – biology, related to our ability to make geneticchanges, engineering, robotics and artificial intelligence: "Currently,technology is advancing faster and I find the reason for this fascinating.Everything technological is built and controlled by human beings, and we knowall the variables. In biology, we try to manipulate and control something thatevolved over millions and millions of years - the human body - and this has so many variables it becomes impossibleto foresee the consequences of manipulation. All the experiments undertaken inthis area demonstrate this is something extremely risky. That’s why it appearsto me, the technological part –modifying our body with devices we manufacture and control - will advance more rapidly than a biologicaltransformation.”
But then,we ask, will humans achieve what they have always sought - to be immortal?Professor Fonseca’s answer is clear: "We’re working in that direction, but it’sa matter of time! The type of ‘help’we’ve already been able to give the human body will certainly keep us moreactive and enable us to do more for longer. For example, we’ll replace our eyeswith sensors and our legs with prosthetics that run faster etc.”
What aboutthe role of ethics? She agrees this subject is going to raise completely newissues for ethics and risk management: ‘Suppose someone wants to amputate theirlegs; there’s no health problem, but they want to do it to become a top runnerachieving the best performance possible. Is this acceptable? And how will wedeal with the risk involved in this type of intervention?’ Professor Fonsecathen suggests that instead of using our hands to work computers and mobilephones, we’ll implant chips in our brain and use our own brain to directlycontrol the computer or smartphone.
A new approach – proactively preventing disease
Today wetalk about physical and chemical biosensors that will enable the earlydetection of ‘defects’ in our body, warning us to the probability ofcontracting disease and allowing us to take preventative action. ProfessorFonseca agrees this area is rapidly expanding: "There’s already a number ofdevices that give us detailed biological information about our body – our heart rate, blood pressure andtemperature are a few examples.
The bigquestion is, how are we going to translate this information into somethinguseful? This is where artificial intelligence and big data come in. In order toassociate certain patterns of change with a set event, such as the appearanceof diseases, we need a history of and data on many people over time. When wehave this information, we’ll be able to prevent diseases. Here too, we’retalking about technological development.”
But none ofthis will be possible without the active involvement of people who are willingto use sensors and share their data during their lives, helping scientistsidentify and analyse patterns. She comments: "People will need to participatein the health discovery process and we have to think about how we can findincentives for them to do so.”’
ProfessorFonseca acknowledges insurers have a very important role in thisprocess, both in promoting campaigns for good life styles and rewardingcustomers who have positive health indicators.
The future’s here today – for everyone
Will thegeneral population have access to this new medicine or can only the rich becomeimmortal? Professor Fonseca believes the latter will be unacceptable, and inthe same way mobile phones and then smartphones are now generally used,there’ll be strong social pressure for these advances in medicine to crossdivides and become widely accessible. If they don’t, we risk a socialbreakdown. The great advantage of shared information is that if someone is ableto be immortal, everyone will know about it.
ProfessorFonseca leaves a final message for FULLCOVER readers:
"It’sessential the general population’s prepared to face the new world technologypromises us. We cannot however allow ourselves to be dazzled by innovation; wemust promote a critical spirit of analysis, because many will come to nothing.The educational system should not be so focused on information, but rather ondeveloping the students’ capacity for critical thinking, stimulating them tocompare and analyse the benefits offered by an innovation, alongside the risksinvolved. It’s essential to open up a debate on these subjects, but a debatebased on reasoned arguments and not thoughts. With the proliferation of blogsand opinion leaders, more than ever we need arguments based on scientific facts,because we’re going to be confronted with a world that’s increasinglytechnological. And this isn’t five or 10 years down the road, it’s alreadyhappening. We must act quickly, because the future’s already arrived, it’s herenow, today.”
Maria do Carmo Fonseca is Professor at theUniversity of Lisbon Medical School and President of the Institute of MolecularMedicine João Lobo Antunes (IMM). She is member of several scientificorganizations such as the European Molecular Biology Organization and thePortuguese Academy of Sciences, and she is editor for the Journal of CellScience and the RNA journal. She currently chairs the Scientific Advisory Boardfor GenoMed, a spin‑ ‑off company of IMMdedicated to molecular diagnostics. She was visiting Professor at HarvardMedical School (2011 to 2013), and Director of the Harvard Medical School‑ ‑Portugal Program (2009 to 2015). Shehas received the Comenda Ordem de Sant’Iago da Espada Distinguished CareerNational Award (2001), the Iberian DuPont Science Award (2002), the GulbenkianScience Award (2007), Prémio Pessoa National Award in Arts, Science and Culture(2010), and Prémio D. Antónia Ferreira Portuguese award for EntrepreneurialWomen (2013). Professor Fonseca has authored more than 150 scientificpublications with a total of approximately 10 thousand citations. Her lab isknown for studies on RNA biology. Her work has contributed to a betterunderstanding of how perturbations in RNA metabolism regulation contribute togenetic diseases, including cancer.
