Genomics has changed how I practice medicine by changing my way of thinking from a reactive treatment approach to one that is based on individualized risk assessment and prevention. I have found pharmacogenomics to be a particularly valuable area for using this technology as it allows me to explain why some patients do not respond to standard therapy (and/or develop side effects) because of their genetic variation. An unexpected challenge has been dealing with patient expectation; most patients believe that once they have had genetic testing done they will know exactly what their risks are and/or what their genetic mutations are. However, while genetic testing can provide probability of risk or genetic mutations of unknown significance, the translation of these results into action oriented, evidence based recommendations that will not cause unnecessary anxiety in my patients is now a major component of genomic informed care. Thank you Dr. Seyed Hassan Fakher MD Preventive Health & Sports Medicine https://www.linkedin.com/in/hassan-fakher-md-322615244/ https://www.invigormedical.com/contributor/dr-seyed-hassan-fakher-md/ Dr.fakher@invigormedical.com Invigor Medical
I run a genomics data platform, so I see the flip side of patient care--the infrastructure chaos that happens *before* clinicians can even use genomic data effectively. The most unexpected challenge isn't the science; it's that over 97% of hospital genomic data just sits unused because nobody can actually access it across systems. We worked with the COVID-19 Host Genetics Initiative analyzing data from 20,000+ ICU patients across multiple countries. The insight that shocked me? We could identify genetic factors for severe outcomes, but each hospital's data was trapped in different formats, different clouds, different jurisdictions. The medical knowledge existed--the *plumbing* didn't. The real shift in my approach has been realizing that federated analysis solves what clinical guidelines can't. When an oncologist in a community hospital treats a rare cancer subtype, they shouldn't need to move patient data anywhere--our platform runs the analysis where the data lives, pulling insights from global datasets while the information never leaves their secure environment. That's how you get precision medicine to the 80% of patients who aren't at major academic centers. What keeps me up at night isn't the genomics--it's the 60% reduction in study timelines we're leaving on the table because researchers can't implement basic data standards like CDISC. Fix the boring infrastructure problems, and suddenly genomics actually reaches patients instead of staying in research papers.