About the Massification of Direct-to-consumer genetic tests

Nowadays, the information obtained from genetic tests (and further discussion over it) is front-page news almost every day and as related to many different scenarios.

Some days ago, on the news, there was a proposal from the Roche Institute Foundation to align the Spanish Healthcare system with other initiatives worldwide for the implementation of Personalized Precision Medicine (PPM) approaches. The initiative has been published already in 2017, but last month has been presented to the Spanish National Healthcare authorities. The Healthcare industry transformation towards the more value-based approach and PPM, is based on the fact that Genomics (and other –Omics) approaches have become widespread and highly accessible to everyone thanks to their significant cost drop. The cost of sequencing the entire human genome has dropped from $100M in 2001 to less than $1000 in 2014 and, consequently, many companies exist that are offering at-home genetic testing and analysis to the public (direct-to-consumer DTC) for less than 200 EUR.
On another page, thousands of genetic data from a public web (where volunteers share their results from the most famous DTC DNA test companies) have been used to increase the significance of a study about the biggest genealogy database: it links 13 million people related by blood or marriage and give insights regarding the (less than expected) impact of genetics on longevity.

I have got my own genetic screening done, with #DNAFit. It is for Nutrition and Sports genetics info only but, even if I can’t speak about any ancestry or disease predisposition genetics test, I thought of sharing my reflections. In my personal opinion, it is extremely interesting and, unexpectedly, complex to evaluate by myself (even if I have a scientific education) may be due to the lack of specific knowledge in the selected genetic locus analyzed.
I have received a huge report, then a very instructive follow-up call from the #DNAFit team, a Sports Nutritionist in my case. I have found a nice genetic rationalization for some personal characteristics (better for me not to have many cups of coffee; explanation to my susceptibility to alcoholic drinks, which repeatedly found myself a lot weaker than anyone else almost in every situation; some explanations to my sports preferences; etc.) but I have also found myself unable to interpret the significance of the analyzed genes. Then, I am also wondering if the analysis taken has been the most complete and then the best one available on the market, but as someone who has a tendency to need to understand the “why” beyond everything and want to explain it all – even if not always this is possible–, maybe I can assume this is not so dramatic.

However, I would have loved to find more engagement and interest from the Healthcare “companions” (physicians, pharmacists, personal trainer) I have come across after having those results. Actually, I found they are not comfortable with this request for information and not even their opinion. Probably, this is intrinsically due to my genetic test’s features (Nutrition and Wellbeing focused) but I think there is still a generalized scarcity of widespread proper information. Definitely, there also is still a long way to go and spread knowledge and means to understand the value that genotypic data can provide, for both Healthcare providers (HCPs) and the general public (consumers or patients).
I hope that soon every HCPs, in every Hospital, Primary Care or Wellbeing Center (as Gyms or Training centers) and even every researchers involved in early steps of clinical studies, will have good knowledge to exploit the power of combination of genomic data within the clinical practice, in order to build the most detailed picture of every person in need of assistance.

By highlighting the advantages of Genomic approaches in PPM, I don’t mean this is the only key for better healthcare treatments, but simply one of the pillars to build the most satisfactory healthcare solution, together with solid traditional scientific information. Indeed, a more “Holistic” view is necessary to deliver the best response, as many cases already have demonstrated; e.g. the importance of the context during cancer development and to deliver effective therapeutic approaches (as in the case of Immune therapies).
Moreover, the “Full”, “Holistic” view must always consider the environment (physical and social) and the lifestyle habits. Indeed, after having my DTC done, I have considered changes in my lifestyle habits and I think it would be even more impactful if I would be a smoker, alcohol consumer or taking prescribed medications.

Elisa Guida, Ph.D

Brand and Account Manager