DTC testing Flashcards
describe the typical DTC process:
no provider, typically genotyping for particular variants/SNPs, Pt self pay, provider not involved in results
for entertainment, ancestry, wellness/lifestyle, and health focused
what is considered DTC?
access to a person’s genetic info without involving a HCP or insurance company in the process
what’s the difference between DTC and physician-mediated testing?
PMT typically health related; genetic info offered outside of traditional clinical practice but HCP involved in review of order and results
both: marketed directly to consumers, at-home, consumers notified of results by mail/phone/online, don’t need medical reason for testing
benefits of DTC?
Promotes awareness of genetics and genetic disease
Enables consumers to take proactive role in healthcare
Learn about ancestry
Find family members
Non-paternalistic view of healthcare
Knowledge is power
Privacy/GINA
Convenient and low-cost
risks and limitations of DTC?
Not comprehensive
Consumers are vulnerable to being misled by unproven or invalid tests
Consumer confusion
Unexpected familial implications
Lack of clinical utility
Requires clinical confirmation
Concerns about privacy and data
Informed consent may be lacking
Inappropriate action based on results
what non-health related reports in DTC?
ancestry, traits, paternity, recreational?
what health/wellness tests in DTC?
carrier screening, PGx, hereditary cancer, adult onset disease (mendelian and MF)
what types of technologies do DTC companies use?
Microarray (usually SNPs) - limited detection of novel variant
GWAS (disease associations)
Admixture analysis (ancestry/geographical origins)
what file format does raw data come in? what types of genetic info does it have?
VCF
SNPs and small INDELS
can DTC raw results be used for clinical management?
nope - must be clinically confirmed
what information do you need for DTC raw data to be clinically confirmed?
need to know reference genome build (usually 37), clinical interpretation may be different, some labs offer confirmatory testing specifically for DTC results
what motivations typically exist for DTC pts?
individual health implications, family health implications, ancestry information, curiosity, altruism
what concerns do pts typically have associated with DTC?
privacy risks, emotional impact of results, potential for family disruptions
what types of things do we counsel pts about relating to confirmatory testing for DTC?
penetrance may be unclear for P variant in a healthy person w/ no FHx
condition-specific management
risks for family and screening options
insurance implications/GINA
