Personal Problems

Earlier this year, The Pathologist reported on the Estonian Biobank’s ambitious vision of personalized health care for an entire nation. In terms of making this dream come true, biobank leader Lili Milani concluded, “This will require discovery, validation, cost-effectiveness analysis, and guidelines for clinical implementation of these new findings. And finally, of course, we need health care providers to support this with the funding and implementation of new health care services.” But, with so many other services competing for precious health care funding, is genetic testing ever likely to enter mainstream medicine?

The answer might come down to governments’ spending priorities. The UK Government, for example, made a commitment to fund research that could help bring genomic technologies into clinical settings across the nation.

However, in his article on metabolic phenotyping, Jeremy Nicholson advises caution in predicting a medical revolution, saying “While new high-performance AI approaches make things technically easier over time, personalized healthcare for entire populations is still a distant goal, likely achievable only for rare diseases.” Recognizing that high-tech solutions can be a barrier to progress, he adds, “Science should benefit all of humanity, not just those in wealthy areas. Unfortunately, current omics technologies are costly and require extensive data analysis, which delays results.”

Pharmacogenomics is another field with the potential to revolutionize patient outcomes – by eliminating trial and error when matching patients to drugs. AMP has been facilitating important work in standardizing pharmacogenomics methodology, which will surely aid its acceptance in the few institutions in the world that can afford to offer it. But while the cost remains so high, it seems likely that pharmacogenomic testing will only be available to a small percentage of patients worldwide.

In precision oncology, patient access to testing remains suboptimal – even in regions where genomic testing is well established. Reports suggest that in the United States, for example, an estimated 60 percent of eligible patients are missing out on targeted therapies for advanced non-small-cell lung cancer.

Such access could be boosted by collaborative efforts of pathologists and genetic counselors, argues Ellen Matloff. However, she warns, “Here in the United States genetic counselors are not recognized as providers of genetic counseling by CMS, Medicare, or Medicaid. This presents a huge barrier.”

In response to such barriers, The Royal College of Pathologists of Australasia has issued a set of recommendations to improve accessibility to pharmacogenomic testing. These include wider inclusion of this type of testing on health insurance schedules, improved education on the benefits, and greater investment in research in the field.

I’m sure that the many thousands of patients who have benefited from personalized medicine would attest to it representing the future of healthcare. But for those who are missing out, it may feel more like a steady march toward inequity and unfilled potential.