The vast advances in genetic testing ushered in a new era in which patients with illnesses are not the only ones to seek therapy guidance from genetic testing.  Parents want to know what their children may face in the near and far term of life. Moving beyond the neonatal screening programs for cystic fibrosis, phenylketonuria, and others, we have the potential to screen newborns for a plethora of genetic tendencies. The current screening programs focuses on high impact diseases with potential interventional opportunities that benefit the patient rather soon in life.

The present wave of genomic testing can include such important genetic issues as well as those which only change risk or may not occur for years to come.  Knowing that you “will” have cystic fibrosis makes a big difference from day 1.  Knowing that you have a 5% higher risk of a disease that might occur in 10, 20, or even 40 years later does not get most people excited.  This is more true if nothing can be done to change that risk.  Anxiety may torment the parents or the child in the future.

A study from the Journal of Pediatrics by Milko etal evaluated what genetic results might be available to parents and how they could be presented to those parents.  With the sheer number of results from genomic testing, a hierarchy of impact/importance will help recipients of results to prioritize responses.  Medical providers who hand over such results must sit down and guide parents to understand what ranks as worthy of life changes are what do not.

The article in Science Daily which summarize the study does not address the topic of online reports for genetics, but I will add the following.  Yes, you can cheaply run your data through an online company and receive a colorful report about which vitamins you need or which metabolic cycles may be off.  But you do get what you pay for and if you pay $20, the benefit is likely commensurate with your invoice.  With that in mind, unless you are a genetics expert, get help with your results from an expert before making drastic life changes.

At Sanctuary, we help patients understand their genomic testing so they don’t waste their time on genetic fad diets or overlook a clinically important gene.  Combining genetics with functional testing means we can assess which genes are playing a role in our patient’s ill health and which are likely behaving themselves. This study reminds us that we are doing things the right way in walking through reports slowly rather than rushing into silliness found in online “cheap” interpretations.  Such an approach leads to healthier, more abundant lives.

 

REFERENCE:

Laura V. Milko, Julianne M. O’Daniel, Daniela M. DeCristo, Stephanie B. Crowley, Ann Katherine M. Foreman, Kathleen E. Wallace, Lonna F. Mollison, Natasha T. Strande, Zahra S. Girnary, Lacey J. Boshe, Arthur S. Aylsworth, Muge Gucsavas-Calikoglu, Dianne M. Frazier, Neeta L. Vora, Myra I. Roche, Bradford C. Powell, Cynthia M. Powell, Jonathan S. Berg. An Age-Based Framework for Evaluating Genome-Scale Sequencing Results in Newborn Screening. The Journal of Pediatrics, 2019; 209: 68 DOI: 10.1016/j.jpeds.2018.12.027

 

Thanks to Science Daily:

University of North Carolina Health Care. “If you could learn every disease your child could possibly develop in life, would you?.” ScienceDaily. ScienceDaily, 24 May 2019. <www.sciencedaily.com/releases/2019/05/190524113531.htm>.

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Sanctuary Functional Medicine, under the direction of Dr Eric Potter, IFMCP MD, provides functional medicine services to Nashville, Middle Tennessee and beyond. We frequently treat patients from Kentucky, Alabama, Mississippi, Georgia, Ohio, Indiana, and more... offering the hope of healthier more abundant lives to those with chronic illness.