Every day, we are hearing about new genetic discoveries, from finding the loci of various diseases to the discovery of new diagnostic tests to detect these. Yet, we are not seeing this new science being brought into the exam room and having much clinical relevance. If we look further, it is not because the patient lacks health insurance or financial means for these tests, whether the test is a genotype panel, a whole exome or transcriptome sequence, or a whole genome sequence.

Why are new discoveries not being utilized in medicine?

 

1. Some data is simply not actionable. It still needs aggregation and interpretation. We truly do not know what all the data means. Data is published daily that may yield clinically valuable information on associations between discrete gene somatic mutations or germline variants (collectively, “genomic events”), and prevention, diagnosis, prognosis, or treatment of certain diseases. The number of new sources of data each year runs in the hundreds of thousands. But the data is spread across conference abstracts, FDA reports, clinical trials, other scientific literature, and proprietary databases. In the case of cancer genomics, arguably the most important field in genomic medicine, there is currently no universally accepted, open-access database that efficiently enables genome analysts to retrieve all of the available data potentially related to various genomic events in given cancer patients. Thus is the analyst’s work of interpreting and reporting the patient’s clinically associated genomic event—the last step before a physician recommends prophylaxis, or makes a cancer diagnosis or prognosis, for a patient—made of longer duration, or otherwise more challenging. [1]

2. The data that is actionable is not being acted upon by physicians and healthcare providers. There is some lag in bringing new diagnostic studies into the exam room. Some doctors are not aware of the new studies available. And many are not ready to jump to a new means of testing when the standard of care has been determined. There is inherent liability in being among the first in trying a new medical standard. Unfortunately, these thoughts prevent these discoveries from becoming mainstream more quickly. Pharmacogenetics, the study of drug-gene interactions (along with pharmacogenomics, also known as PGx), is perhaps the most soundly validated, clinically actionable data domain in genomic medicine. Yet even for medicines very commonly prescribed (eg, simvastatin), physicians and other providers often aren’t obtaining relevant PGx genotypes for their patients—genotypes that typically can predict, based on a given patient’s DNA, whether the patient will be harmed and/or helped by a particular medicine. Many pharmacists also aren’t aware of key PGx interactions. Eric Topol, MD, recently tweeted a list of 7 clinically significant, single gene variant-drug PGx interactions that he wrote are “ignored in U.S. medical practice” [2].

3. Many physicians don’t feel comfortable in the field of genetics, and many lack geneticists to refer their patients. This lack of training and resources is a big cause of delay in bringing new genetic tests into clinical use. Teaching in genetics is additionally not consistent across medical education. However, there are some medical schools, such as Mt Sinai in NYC, that are on the front in this. We need others to catch up and provide a more uniform training in genetics.

4. Patients don’t trust new things. This is not true of all, but in these days of the internet, patients are educated consumers and make informed choices based on their own research. They are not always so willing to try medical care that is not tried and true and easily searchable by Google.

Scientists are making remarkable discoveries and advances in medicine every day. But unless we make this data actionable in the exam room, the benefits of this research are delayed. We must keep forging ahead in our fight to prolong life, but we also need to find a way to translate this data into readily usable means of medical care. Scientists’ aid will be essential in this translation. Physicians (and other healthcare providers) should be required to keep up with relevant information in the field of genetics and to use new diagnostics as they become available. And we must increase the number of medical geneticists. Unless we bridge this gap in genetic breakthroughs and clinical utilization, we are not going to provide the best possible healthcare to patients.

 

John A. Humphreys, PharmD, BCPS, is a Health & Genomics Consultant.  He is a clinical pharmacist entrepreneur working with experts in human genomics, bioinformatics, and social media.


Dr. Linda Girgis MD, FAAFP, is a family physician in South River, New Jersey. She holds board certification from the American Board of Family Medicine and is affiliated with St. Peter’s University Hospital and Raritan Bay Hospital. Dr. Girgis earned her medical degree from St. George’s University School of Medicine. She completed her internship and residency at Sacred Heart Hospital, through Temple University and she was recognized as intern of the year. Over the course of her practice, Dr. Girgis has continued to earn awards and recognition from her peers and a variety of industry bodies, including: Patients’ Choice Award, 2011-2012, Compassionate Doctor Recognition, 2011-2012. Dr. Girgis’ primary goal as a physician remains ensuring that each of her patients receives the highest available standard of medical care.

Follow Dr. Linda Girgis, MD, FAAFP: Website | Twitter |

Dr. Linda Girgis MD, FAAFP, is a family physician in South River, New Jersey. She holds board certification from the American Board of Family Medicine and is affiliated with St. Peter’s University Hospital and Raritan Bay Hospital. Dr. Girgis earned her medical degree from St. George’s University School of Medicine. She completed her internship and residency at Sacred Heart Hospital, through Temple University and she was recognized as intern of the year. Over the course of her practice, Dr. Girgis has continued to earn awards and recognition from her peers and a variety of industry bodies, including: Patients’ Choice Award, 2011-2012, Compassionate Doctor Recognition, 2011-2012. Dr. Girgis’ primary goal as a physician remains ensuring that each of her patients receives the highest available standard of medical care.

Follow Dr. Linda Girgis, MD, FAAFP: Website | Twitter |

– See more at: http://dev.physiciansweekly.com/unity-doctors/#sthash.ze5Urevo.dpuf

 

References

1. Good et al. Genome Biology 2014, 15: 438 (http://genomebiology.com/content/pdf/s13059-014-0438-7.pdf).

2. https://twitter.com/EricTopol/status/513699508996173825

3. Mikat-Stevens et al. Genetics in Medicine 2014, Sep 11 (advance online publication) (PubMed: http://www.ncbi.nlm.nih.gov/pubmed/25210938).

4. http://www.medicineforum.net/primary-care-doctors-reluctant-to-provide-genetics-assessment-in-routine-care

5. https://twitter.com/DavidEpstein/status/442020894613856256/photo/1