Article | June 1, 2022

Unlocking The Full Potential Of Genomic Medicine


One in 33 infants is born with a birth defect [1–3], which can cause lifelong illness and be attributed to a genetic mutation. Advances in sequencing and bioinformatics are rapidly untangling the web of genetic and epigenetic factors underlying nearly all diseases. This wealth of information has the potential to unlock the human genome to treat disease and bring about long-term remissions and cures and along with conventional small molecule and biologic drugs, make all disease targets druggable. Why then, in spite of this staggering potential and the wealth of information have so few genomic medicines come to market?

Apart from regulatory aspects, there are two key challenges to realizing the potential of genomic medicines. First, is getting the active pharmaceutical ingredient (API) into the right cells at the site of disease. This is often called the delivery challenge. Second, is economics: genomic causes of disease can be traced back to mutations unique to an individual patient, while the pharmaceutical industry is reliant on economies of scale incompatible with producing individualized medicines. Potential technological solutions to these challenges are on the horizon and we will examine each in turn.

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