PRACTICAL GENETICS
Ancestry . com ( 1 .) 23andMe ( 2 .) Invitae ( 3 .) Ancestry data Origin and ethnicity Ethnicity timeline No
Genetic Diseases Cardiac — 4 conditions Neurologic — 3 Carrier — 61 genes Carrier states — 3 GI--2 conditions Cardiac — 77 genes Cancer Risk — 4 Metabolic — 3 Genetic — 147 genes Connective tissue — 5 Hematologic — 2
Costs $ 99 to $ 300 $ 99 to $ 499 $ 250 to $ 350 Physician review No No Yes
Genetic Counseling
Reported list of conditions tested
Suggested but not part of offering
BRCA1 , BRCA2 , Lynch Syndrome , Cystic Fibrosis , Sickle Cell , Tay- Sachs , Ehlers-Danlos , Familial Thoracic aorta aneurysm / dissection Loeys-Dietz Syndrome , Marfan Syndrome , Cardiomyopathy , Familial Hyperlipidemia , Hereditary hemochromatosis , Hereditary Thrombophilia
Refer to list from National Society of Genetic Counseling
Parkinson ’ s , Late onset Alzheimers , Celiac Disease , Alpha-1-Antitrypsin Deficiency , Primary Dystonia , Factor XI deficiency , Gaucher Type 1 , G6PD Deficiency , Hereditary Hemochromatosis , Hereditary Thrombophilia
Included in the price
Cancers : Breast , Ovarian , uterine , skin , prostate , gastric , renal cell carcinoma , thyroid ,
Chromosomal microArray Analysis and Whole Exon Testing : epilepsy , cardiovascular disorders , cystic fibrosis , Skeletal disorders , pediatric oncology
Much of the current climate stemmed from the formation of Ancestry , Inc . in Utah in the late 1990s . Utah is the home of the Church of Latter Day Saints ( LDS ) with its strong reputation for housing genealogy records . Several of the companies that supported the LDS ’ s FamilySearch website later merged and formed Ancestry , Inc . and then Ancestry . com . The focus was on “ finding your roots .” That is still the primary function of Ancestry . com , which claims to have access to 27 billion records , and to have provided information to 13 million people . But pressure from the growing market on health information has pushed the company into offering a product called Ancestry Health .
Fifteen years ago , Anne Wojcicki and Linda Avey founded 23andMe . It is significant that Wojcicki ’ s sister Susan is the CEO of YouTube and one of the founders of Google . That Silicon Valley savvy has helped propel 23andMe to have the greatest brand recognition in the health related DTC genetic testing . The publicly stated core values of the company reflect the boldness of their direction : “ We are a mission-driven company with big dreams of using data to revolutionize health , wellness and research . We want to improve healthcare .” The company had to overcome concerns about the accuracy of its saliva-based genetic testing and its ability to keep information private and secure . But after convincing the
FDA that they had accurate technologies for genomic identification , the company has seen a dramatic uptake of its product by an information-seeking public .
Over the past decade , a number of other companies have entered the DTC genetic testing market . Invitae is an example of a company that ’ s focused more on mass production of clinical data for clinicians , but also provides information to individuals . This company markets to both clinicians and consumers . All samples are put through the same process of whole genome sequencing . If a clinician is interested only in a specific disease , then that part of the analysis is sent to the physician . But if the doctor or the consumer wishes a full analysis then the report comes with hundreds of variants . Their software system attempts to stratify the data into information buckets with relative risk for disease expression . Interestingly , the software builds a pedigree chart from the data , rather than have the clinician develop the pedigree to inform a testing strategy . This takes the pedigree analysis backwards so as to give a genetic counselor something to work with after the testing . Invitae does not do ancestry analysis , as its focus is finding genetic disease .
These three popular DTC genetic testing firms do represent the spectrum of focus from primarily ancestry to finding genetic disease ( continued on page 8 ) APRIL 2021 7