AUTHOR=Helzlsouer Kathy , Meerzaman Daoud , Taplin Stephen , Dunn Barbara K. 

TITLE=Humanizing Big Data: Recognizing the Human Aspect of Big Data

JOURNAL=Frontiers in Oncology

VOLUME=Volume 10 - 2020

YEAR=2020

URL=https://www.frontiersin.org/journals/oncology/articles/10.3389/fonc.2020.00186

DOI=10.3389/fonc.2020.00186

ISSN=2234-943X

ABSTRACT=Genetic testing for germline variants for the purpose of clarifying inherited risk for diseases
such as cancer or for ancestry has become widely accepted in the non-research setting. A
number of advanced technologies such as microarrays and, more recently, next-generation
sequencing, enable testing of thousands of genes and variants simultaneously. The choice of
technology depends on the clinical presentation or the non-medical question. In the clinical
setting, these tests provide assessment of variants known to confer propensity to disease, e.g.
cancer. While much of the knowledge about specific inherited variants that increase cancer risk
derives from associations based on analysis of “big data” accumulated from thousands of
individuals tested in a wide variety of settings, applying that information back to an individual
and their situation has been challenging. Ideally, pre-test genetic counseling, particularly when
the purpose relates to disease risk, is carried out to assess the value of testing and what test to
apply to a given individual based on family history and assorted other individual characteristics.
It is critical to remember, especially in the current climate of intensive commercial promotion
of genetic testing, notably in the direct-to-consumer setting, the particular needs of the
individual person whose medical or other purpose brought them to the attention of genetic
testing services and to provide them with the information they require for making decisions to
test, including interpreting appropriately the test results and ensuring adequate management
given results of the tests. In this paper, our goal is to bring the sophisticated technology of
genetic/genomic testing and the resulting generation of “big data” down to the human level,
where the impact on individual lives can be addressed and understood.