The field of cancer genetics/genomics is growing in new knowledge at an exponential rate requiring providers in all areas to navigate genetic/genomic information that impacts patient care. The USPSTF recently published guidelines for Primary Care Providers (8/2019) recommending that providers assess women for risk associated with hereditary breast and ovarian cancer syndrome. This recommendation does not consider the inherited risk genetic/genomic emerging and growing body of knowledge that compels experts in the field of genetics/genomics to consider a much broader assessment of risk and its focus is grossly short-sided in not addressing well known and published scientific data on prostate, pancreatic, and melanoma also implicated in abnormal BRCA1 and BRCA2 genetic findings. More importantly, to consider that the field of cancer genetics resides only in the BRCA1, BRCA2 era is ignorant of where the field of cancer genetics has been since the advent of panel testing in 2013. Genetic testing for BRCA1 and BRCA2 alone without the full context of risk is not appropriate and may place individuals and families at risk of missing the opportunity for appropriate surveillance and risk reduction.
As the field of genetics moves to polygenic risk the understanding that there is a much larger population at risk than the established 5-10% of inherited risk individuals is a realization. The sum of single nucleotide polymorphisms may put individuals at greater risk than having an established single gene abnormality. As the field of genetics moves into this territory it is important that genetic experts collaborate with providers to help inform medical plans of care.
The field of genetics has established data that informs genetic abnormalities that effect metabolic pathways and are implicated in drug metabolism and thus help inform personalized medicine in treatment, adverse effects, and toxicity (metabalomics). Science has long established that epigenetic (epigenomics) is extremely important in the field of genetics and lifestyle modification an important component of reducing risk. With the introduction of symptom science – the consideration of personal genetic differences in pathways such as dopamine and serotonin may affect how individuals respond to treatment. Effecting change and informing medical management regarding these evolving areas is embraced in this practice.
With the advent of panel testing rare genetics findings – often incidental, can be hugely important in the care of individuals and families. Collaborating with experts in individual genes or genetic abnormalities empowers families and providers to receive the latest scientific information that may inform treatment, surveillance, and risk reduction. Appropriate preparation of individuals and families for receipt of genetic information prior to genetic evaluation is imperative to appropriate handling of adverse genetic results. Wholistic care in the field of genetics acknowledges the psychosocial impact on individuals and families and incorporates appropriate professional intervention to help navigate this area and facilitate incorporation of new medical identity in individuals and families.
One of the primary goals of this practice is to empower providers in the field of genetics/genomics. As the mandate to include genetic evaluation of individuals into medical management the need for provider education is paramount. Education in basic cancer risk assessment and genetic evaluation, pharmacogenomics, and omics in general for provider groups or the broader community while providing continuing education credits is important in facilitating physician practices and provider groups to optimize patient care, incorporating new knowledge and meeting guideline mandates. Cancer Risk Associates, PLLC is honored to be the first genetic/genomic educator for physician groups in the greater Chattanooga area and the region. Omics and the new emerging fields of symptomomics, pharmacogenomics, epigenomics all are incorporated into education as emerging scientific data from robust studies provides guidance for medical management of individuals, families, and people groups.