The ABCs of Biotech for Christians - Seventeenth in a series - P is for Pharmacogenetics

We hear about the Human Genome. Is there only one? Do all humans have the same one?

Clarification: The human genome is the complete set of nucleic acid sequences for humans, encoded as DNA within the 23 chromosome pairs in cell nuclei and in a small DNA molecule found within individual mitochondria. But each person’s genome is unique.

Pharmacogenomics, also called Pharmacogenetics, is the study of how genes affect a person’s response to drugs. “This relatively new field combines pharmacology (the science of drugs) and genomics (the study of genes and their functions) to develop effective, safe medications and doses that will be tailored to a person’s genetic makeup.” It is part of the field of precision medicine, which aims to treat each patient individually. (ref)

Because of the variation in human genomes, tailoring a drug to an individual can be an expensive project. However, progress in this special area of biotech is being made to lessen the individual expense. Identification of genetics variations that are associated with disease susceptibility and drug responses among individuals (“markers”)¹ are being researched, and there have been some discoveries for specific therapies like warfarin, taken by many for blood coagulation.

Efforts to validate pharmacogenomics based algorithms for warfarin dosing have shown that such algorithms can improve the accuracy of dose prediction. However, converting theoretical benefit into validated clinical benefit has proven difficult… (ref)

This statement describes a difficulty with pharmacogenetics; it is hard to prove that the money spent on development is well spent, which brings us to a brief list of the challenges to the quest.

• Evidence. There is not a weight of evidence that patient outcomes are significantly affected by individual therapies made possible through pharmacogenetics.
• Reimbursement. The need for payment approved by insurance companies.
• Integration into the electronic health record. (Not enough fields for the data, I guess.)

That last one seems funny but must be a real problem for those who have to make it all work. (ref)

A wonderful friend who sits near me at church, was recently diagnosed with pancreatic cancer. After trying some health supplements, he chose to have chemotherapy at one of the Cancer Centers of America that offers the pharmacogenomic approach to treatment. This hospital is not very near his home, but the doctor in his hometown was brutally negative in his prognosis, and it drove him and his wife away.

Hope is a critical element of any professional prognosis. Without it, there is no point in trying to get well. Any doctor can at least say, “Let’s all pray. God is still a God of miracles.” A true statement.

My friends experienced the warmest of receptions at CTCA and a hope for the future. Its website gives easy-to-understand explanations about the drug therapies given for pancreatic cancer (and other ones), so that a person can figure out what is going on when they get a treatment or take a pill. Some of these medicines are listed in the FDA’s table of biomarkers, showing that they have been studied for individual or groups with similar profile for genomic efficacy. (ref)

CTCA also advertises that they participate in clinical trials to offer patients innovative treatment options. The local doctor could have said that if a treatment were not to help, he knew of other avenues.

Back to the topic of Pharmacogenomics: the major criticism seems to be its cost to benefit ratio.

None of us can know if we will be faced with a decision to pursue an expensive route that could hold more promise than the one-size-fits-all offer. I am glad that my church has provided as much assistance as possible for our couple with this tremendous need.

It comes to my mind that individual support for human suffering and need is perfectly carried out by the body of Christ in the local church. The member whose intimate identity is known finds help in the arms of the Lord through his people. This is the most precisely perfect care that is possible to have.

¹ The Food and Drug Administration (FDA) monitors drug safety in the United States. It now includes pharmacogenomic information on the labels of around 200 medications. https://www.fda.gov/Drugs/ScienceResearch/ucm572698.htm This information can help doctors tailor drug prescriptions for individual patients by providing guidance on dose, possible side effects, or differences in effectiveness for people with certain gene variants.