The Promise and Limitations of Personalized Medicine
Sequencing a genome costs less than a night in a hospital. Turning that information into better treatment has proved far harder than the price curve suggested.
The Daily Edition2 min read
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- What happened
- The cost of sequencing a human genome fell from roughly a hundred million dollars in 2001 to a few hundred dollars, and genetic information now guides treatment in several cancers and rare diseases. For most common conditions, however, genetics explains only a modest share of risk and has changed care little.
- Why it matters
- Personalized medicine promises to replace treatment by average with treatment by individual. Where it works, it works dramatically. Where it does not, it can mislead patients and consume resources without improving outcomes.
- What remains uncertain
- Whether polygenic risk scores will prove clinically useful for common diseases, how to make genomic medicine work equitably given that most reference data comes from people of European ancestry, and whether the cost of targeted therapies can be sustained.
The first human genome took thirteen years and about three billion dollars to sequence. Today a genome can be read in a day for a few hundred dollars. By the standards of any technology, that collapse in cost is extraordinary. By the standards of medicine, it has delivered less than the curve implied, and understanding why is the key to understanding what personalized medicine can and cannot do.
Where it works
In cancer, tumors are now routinely sequenced to find the specific mutations driving them, and for a growing list of mutations a drug exists that targets them. Patients whose tumors carry those mutations often respond far better than they would to chemotherapy chosen by tissue type. The same logic applies to rare inherited diseases, where identifying the responsible gene can end years of diagnostic uncertainty and, in a few cases, point to a treatment.
Pharmacogenomics, the study of how genetic variation affects drug response, has produced a short list of well-established tests: whether a patient metabolizes a blood thinner slowly, whether an HIV drug will cause a dangerous reaction, whether a common antidepressant will reach effective levels. These are real, validated and underused.
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The cost of sequencing a human genome fell from about $100 million in 2001 to under $1,000 by the 2020s.
Fact · confidence high
- DNA Sequencing Costs: Data · NHGRI
Polygenic risk scores derived from European-ancestry cohorts predict less accurately in other populations.
Fact · confidence high
- Clinical use of current polygenic risk scores may exacerbate health disparities · Nature Genetics, 2019
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