Qatar Foundation experts discuss the affordability of precision medicine

As an emerging field, precision medicine has become the subject of strong debate in the context of affordability. One section of the scientific community believes that the cost-effectiveness of precision medicine remains unclear, while the other camp believes the magic of medicine can be more effective in a world where there is specific patient information available – such as genomes – that can help pave the way to individualized treatments.

“There is quite a lot of debate about the cost-effectiveness of precision medicine, and the reason is that it's just very difficult to accurately predict the costs that are involved with precision medicine, and also the outcomes that it would provide,” says Dr. Borbala Mifsud, Assistant Professor at the College of Health and Life Sciences (CHLS), at Qatar Foundation’s Hamad Bin Khalifa University.

Dr. Mifsud explains that most precision medicine measures in clinical practice at the moment don’t engage in whole genome sequencing. Instead, targeted sequencing or sequencing very specific locations in the genome – which have been shown to have an important outcome for the patient – is done. “That is cost-effective. But in the future, hopefully, whole genome sequencing will be done as a general practice,” she says.

The foundation of precision medicine, which is one of the key areas of Qatar Foundation’s research, development, and innovation focus, is to understand the genetic makeup of people – differences at a population level and at an individual level – and to customize drugs that are effective for people with particular genotypes.

This means that the more we know about the genome and what it does in terms of diseases, the cheaper it will become to deliver precision medicine. “The idea will be to do one whole genome sequencing for a patient at the beginning of their lifetime, and then use that data to act on anything that is clinically relevant,” says Dr. Mifsud. “And that’s not too far in the future.”

Today, a whole human genome can be sequenced at less than US$1,000, while in mid-2015 it used to cost just above US$4,000. Although that might not seem like a large amount, when precision medicine becomes part of public health policy, decision-makers will need to ensure that disparities in access to healthcare are reduced, and health of populations is improved through equitable distribution of funds.

“It is still very expensive to do a whole genome sequencing or whole genome genetic profiling for precision medicine,” says Dr. Omar Albagha, Professor at CHLS. “In some areas of clinical care like cancer, such costs can be justified because of the high cost of treatment and the nature of the illness. However, in order to apply precision medicine to other areas or to expand it, the technology and the cost of performing genetic profiling is still expensive.”

A report published in June 2020 stated that the global precision medicine market was found witnessing a compound annual growth rate of 9.7 percent. And although the sector is seeing an upward trend, its main challenges still remain in the high diagnostic costs, and lack of insurance reimbursement options.

“One of the hindrances is related to coverage – who is going to cover a treatment that is still probably in trial?” points out Dr. Georges Nemer, a Professor and Coordinator of the Genomics and Precision Medicine program at CHLS. “All this genomic information needs to be fed back into the correct treatment in terms of drugs, and that requires a lot of trials. And insurance companies will most likely not cover all these trials. So that’s a big hurdle.”

However, Dr. Edward Stuenkel, Founding Dean of CHLS, believes that precision medicine creates a huge opportunity to truly understand the genetic and environmental causes behind certain individuals that come with a particular phenotype.

“For those who have a set of symptoms, we can begin to identify what might be the appropriate drugs,” Dr. Stuenkel says. “Clearly, new drugs are always necessary, but even some of the drugs that are already out there now can be re-presented and repurposed.”

Pharmaceutical companies emerged as the largest end-use segment in precision medicine, which was valued at around US$22.2 billion in 2019. However, Dr. Stuenkel says: “There are lots of drugs that are almost ‘orphan’ drugs – those that have been approved through clinical trials, but don't necessarily apply well generally.

“But a lot of those drugs can now be reapplied once you understand the genomics a little bit better. Some of these orphan drugs can now be brought back into the network to treat specific individuals or groups based on knowing some of the genomic information.”

For patients in Qatar, experiencing precision medicine may not burn holes in their pockets. A report states that Qatar has established itself as a global leader for health care; is ranked 48th out of 167 countries for health – being the third highest in the MENA region; and has a per capita health spending that is also among the highest in the Middle East. With public healthcare in Qatar being highly subsidized or free, it is a matter of waiting to see how precision medicine will be delivered to patients, and what their experiences will be.