Will Genomics Help Make Healthcare More Equal?

In the world of science, few initiatives have earned the same degree of across-the-board support and enduring effects as the Human Genome Project. First conceived in the mid-1980s and completed in the early 2000s, the Project sought to map the human DNA out in granular detail, sequencing its every individual letter.

In the years since, its impacts have been as great as its ambition. With the complete genome sequence in hand, medical researchers have gained deeper insight into how diseases arise and progress, leading to better and more effective treatments. The Project also accelerated the development of advanced sequencing technologies, in turn enabling even more valuable health research.

Beyond the labs and clinics, the Human Genome Project has also sparked important conversations around the broad societal ramifications—both good and bad—of scientific research.

The Nanyang Technological University’s Institute of Science and Technology for Humanity, in a recent session of Think Out, its running debate series, picked up these conversations and enjoined two of Singapore’s leading thinkers on the matter.

In an hour-long online discussion, Dr Joanne Ngeow, Associate Professor at the Lee Kong Chian School of Medicine, and Dr Ian McGonigle, Assistant Professor at NTU’s School of Social Sciences, approached one loaded question: Does genomics increase or decrease inequality in healthcare?

The Old Inequalities

NTU’s Think Out session had the headline Genomics and the New Inequalities, but in parsing out its central question, both Ngeow and McGonigle recognised that genomics will first have to contend with the old, existing inequalities.

“My argument is less that technologies will lead to inevitable inequalities, but rather, we ought to first also recognise that there are existing inequalities,” McGonigle said, pointing out that it is important to not only anticipate what the potential consequences of genomics might be, but also how the technology will play out in the public in the first place, due to intrinsic differences between segments of the population.

For instance, in a recent survey that he and his team conducted, McGonigle highlights how individuals in the lowest income bracket have noticeably worse genomics literacy than their relatively well-off counterparts. The difference was much starker when looking at attitudes.

Singapore’s poorest stratum, the survey showed, is also the least informed about genomics, and is apprehensive about its integration into healthcare. Key to its successful integration, therefore, are large public education campaigns seeking to bring everyone, especially the lowest socioeconomic bracket, up to speed on genomic technologies.

Aside from public perceptions, the technology itself remains straddled with inequalities that limit its potential in clinical practice.

A genetic test works by comparing a patient’s DNA sequence against a reference genome, which is built using genome sequences of thousands of individuals, Ngeow explained. In general, however, references have predominantly been constructed from Caucasian populations, leading to the under-representation of other ethnicities.

“If you’re not represented on the reference genome and you have a genetic alteration, it comes up as a variant, even though it could really just be normal in your population,” she continued. “But it comes out as a variant.”

Structural Shortcomings

The promise of genomics in medicine is that it can improve overall patient management, from diagnosis down to treatment. It cannot, however, make up for systemic and structural weaknesses in the healthcare ecosystem.

For example, if a woman is found to harbour mutations that put her at higher risk of breast cancer, she will be referred for more frequent mammograms and MRI breast screens, to make sure any tumour is caught early. However, if that downstream pipeline is lacking—if there aren’t enough imaging machines or trained technicians and specialists—then genomic technologies are unlikely to reach its full clinical potential.

“If that structure isn’t there to act on genetic findings, then you don’t need genomics because you don’t have the necessary downstream infrastructure to address it,” Ngeow said. “A proactive healthcare system is not just the genomics—it’s the genomics plus everything else that you need to do after you find someone being at increased risk.” It is important to first ask whether clinics are ready to accommodate genomic medicine.

The need for systemic preparedness for genomics goes beyond hospitals, too. Insurance providers, for instance, will need to decide how genetic predisposition would affect one’s eligibility for coverage, or how mutations would impact premiums.

Ultimately, however, genomic medicine poses much larger questions whose answers have far-reaching implications. Do we have the obligation to let our families know that I have a risky mutation that may affect them as well? Should I even take the test in the first place? How will the results affect my sense of identity? Will my genetic make-up affect my medical care and legal protections?

The NTU Think Out session distilled all of these questions and more into its central dilemma: Does genomics increase or decrease inequality in healthcare? The answer, as it turns out, isn’t as simple as it would seem. Shared societal values, political will and efficacy and the readiness of both the public and healthcare system will shape the consequences of genomics on equality.

“My argument would be that genomics could be used to drive inequality,” McGonigle said. “But these are questions of governance rather than necessarily technological consequences.”

In the world of science, few initiatives have earned the same degree of across-the-board support and enduring effects as the Human Genome Project. First conceived in the mid-1980s and completed in the early 2000s, the Project sought to map the human DNA out in granular detail, sequencing its every individual letter.

In the years since, its impacts have been as great as its ambition. With the complete genome sequence in hand, medical researchers have gained deeper insight into how diseases arise and progress, leading to better and more effective treatments. The Project also accelerated the development of advanced sequencing technologies, in turn enabling even more valuable health research.

Beyond the labs and clinics, the Human Genome Project has also sparked important conversations around the broad societal ramifications—both good and bad—of scientific research.

The Nanyang Technological University’s Institute of Science and Technology for Humanity, in a recent session of Think Out, its running debate series, picked up these conversations and enjoined two of Singapore’s leading thinkers on the matter.

In an hour-long online discussion, Dr Joanne Ngeow, Associate Professor at the Lee Kong Chian School of Medicine, and Dr Ian McGonigle, Assistant Professor at NTU’s School of Social Sciences, approached one loaded question: Does genomics increase or decrease inequality in healthcare?

The Old Inequalities

NTU’s Think Out session had the headline Genomics and the New Inequalities, but in parsing out its central question, both Ngeow and McGonigle recognised that genomics will first have to contend with the old, existing inequalities.

“My argument is less that technologies will lead to inevitable inequalities, but rather, we ought to first also recognise that there are existing inequalities,” McGonigle said, pointing out that it is important to not only anticipate what the potential consequences of genomics might be, but also how the technology will play out in the public in the first place, due to intrinsic differences between segments of the population.

For instance, in a recent survey that he and his team conducted, McGonigle highlights how individuals in the lowest income bracket have noticeably worse genomics literacy than their relatively well-off counterparts. The difference was much starker when looking at attitudes.

Singapore’s poorest stratum, the survey showed, is also the least informed about genomics, and is apprehensive about its integration into healthcare. Key to its successful integration, therefore, are large public education campaigns seeking to bring everyone, especially the lowest socioeconomic bracket, up to speed on genomic technologies.

Aside from public perceptions, the technology itself remains straddled with inequalities that limit its potential in clinical practice.

A genetic test works by comparing a patient’s DNA sequence against a reference genome, which is built using genome sequences of thousands of individuals, Ngeow explained. In general, however, references have predominantly been constructed from Caucasian populations, leading to the under-representation of other ethnicities.

“If you’re not represented on the reference genome and you have a genetic alteration, it comes up as a variant, even though it could really just be normal in your population,” she continued. “But it comes out as a variant.”

Structural Shortcomings

The promise of genomics in medicine is that it can improve overall patient management, from diagnosis down to treatment. It cannot, however, make up for systemic and structural weaknesses in the healthcare ecosystem.

For example, if a woman is found to harbour mutations that put her at higher risk of breast cancer, she will be referred for more frequent mammograms and MRI breast screens, to make sure any tumour is caught early. However, if that downstream pipeline is lacking—if there aren’t enough imaging machines or trained technicians and specialists—then genomic technologies are unlikely to reach its full clinical potential.

“If that structure isn’t there to act on genetic findings, then you don’t need genomics because you don’t have the necessary downstream infrastructure to address it,” Ngeow said. “A proactive healthcare system is not just the genomics—it’s the genomics plus everything else that you need to do after you find someone being at increased risk.” It is important to first ask whether clinics are ready to accommodate genomic medicine.

The need for systemic preparedness for genomics goes beyond hospitals, too. Insurance providers, for instance, will need to decide how genetic predisposition would affect one’s eligibility for coverage, or how mutations would impact premiums.

Ultimately, however, genomic medicine poses much larger questions whose answers have far-reaching implications. Do we have the obligation to let our families know that I have a risky mutation that may affect them as well? Should I even take the test in the first place? How will the results affect my sense of identity? Will my genetic make-up affect my medical care and legal protections?

The NTU Think Out session distilled all of these questions and more into its central dilemma: Does genomics increase or decrease inequality in healthcare? The answer, as it turns out, isn’t as simple as it would seem. Shared societal values, political will and efficacy and the readiness of both the public and healthcare system will shape the consequences of genomics on equality.

“My argument would be that genomics could be used to drive inequality,” McGonigle said. “But these are questions of governance rather than necessarily technological consequences.”

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