Gene-targeted therapies for rare diseases: How to achieve equitable access

A new commentary published in the American Journal of Medical Genetics investigates the role equitable access has to play in allowing gene-targeted therapies to live up to their potential for addressing rare diseases.

Gene-targeted therapies are those that make use of knowledge of specific genetic aetiologies or disease-causing variants to better treat disorders with a genetic basis. As many rare diseases fall into this category, they have the potential to transform care for rare diseases. However, there are large disparities in accessing genetic services, a prerequisite for receiving gene-targeted therapies.

One of the most commonly-discussed aspects of equitable access when it comes to rare diseases is the high cost of many therapeutics. This should not be dismissed, as it is a significant barrier for many to receiving care. However, there are also significant disparities in access to diagnosis. Newborn screening has arisen in part as an effort to make diagnosis more accessible, and give more individuals access to gene-targeted treatments earlier on in the course of their disease.

Equity considerations are also important throughout the research and development process. Groups who have historically been mistreated by medical systems may be reluctant to participate in clinical research. A number of other socioeconomic factors can also make already underrepresented groups unable or unwilling to participate in research. This leads to bias in research findings and can compromise the validity of said findings for members of minority groups.

In order to overcome these challenges, the authors make a number of recommendations to improve equity both throughout the development process for gene-targeted therapies and in the diagnosis and care of rare diseases. By implementing these recommendations, they argue that gene-targeted therapies will be able to deliver transformative care for countless individuals living with a rare disease.

Read more about it here.

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