Rosanne Alexa Diaz - Medical Genetics

 Medical Genetics

The human body normally contains around 24,000 protein-coding genes (Salzberg, 2018). Even so, one minor mutation can change the way a person lives forever. Understanding, preventing, and correcting this is where medical genetics comes into play. 


(Image Credit: vchal/Shutterstock.com)


Medical genetics is transforming medicine by revealing the genetic causes of disease and facilitating individualized therapies. Yet, this has also revealed significant global health inequities. While sophisticated genetic tests and therapies are increasingly routine in high-income nations, basic genetic services remain inaccessible to a majority of underdeveloped and developing countries. This disparity deprives millions of people of accurate diagnoses or effective treatments for preventable or controllable conditions.

In most countries, the lack of infrastructure, excessive costs, and insufficiency of trained experts hamper the integration of genetics into public health. For instance, in the Philippines, the availability of genetic testing is mostly limited to urban areas and private hospitals, with only seven operating newborn screening centers in the country (Newborn Screening, 2018). Public hospitals lack facilities or trained staff to provide diagnostic genetic services, compelling families to travel far or remain without testing. Diseases such as thalassemia or metabolic disorders could go unnoticed until complications have set in — by which time cure could prove less effective or too late. Accordingly, avoidable complications from genetic disorders continue to debilitate vulnerable populations.

(Image Credit: https://newbornscreening.ph/centers-and-facilities/?tab=nsc)

To fill all these gaps, global health policies need to place equity high on their agenda. This means investing in education and training, infrastructure, and policy support for ethical, culturally appropriate genetic care. Through collective action, it can be ensured that medical genetics is made available to all populations, not only to the privileged few.

In a globally challenged world, medical genetics has to transform not only by scientific leaps but also by dedication to fairness and accessibility.


Meet the Author: 

Hello! I am Rosanne Alexa “Sunni” Diaz. I recently graduated high school in the Philippines and am currently pursuing my undergraduate degree — Bachelor of Science in Occupational Therapy.

Reference List:

Newborn Screening. (2018). Centers & Facilities. Newborn Screening Reference Center. https://newbornscreening.ph/centers-and-facilities/?tab=nsc

Salzberg, S. L. (2018). Open questions: How many genes do we have? BMC Biology, 16(1). https://doi.org/10.1186/s12915-018-0564-x

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