Journal of Human Biology & Health Education
Ryuji Kawaguchi, et al, J Hum Bio & Health Edu 2017, 1: 1
1: 002

CommentaryDirect-to-Consumer Genotyping in Pre-Disease Field in Japan and the United States
Ryuji Kawaguchi1*, Hiroshi Tamura2 and Eric Rentschler3
PropGene Inc., 2-3-4 Kouenjikita, Suginami-ku, Tokyo 166-0002, Japan1

LPS Consulting Office, 4-7-13-104 Nishishinjuku, Shinjyuku-ku, Tokyo 160-0023, Japan

2Blue Kick, Inc. 300 Mainsail Drive, Westerville, OH 43081,USA3Summary
DNA testing technology has made remarkable progress, including
advanced personal genomics and improved accuracy of geneticdiagnosis. The market for genetic testing for personal andchromosomal disorder screening has remained limited, withgenetic tests being conducted less than 10 percent of laboratory
tests for diagnosis of infectious diseases. Human genetic testing
performed without medical facilities has been increasing in abusiness category known as direct-to-consumer (DTC), in which
companies, not hospitals, sell genetic testing services directly
to consumers. The most important feature of the service is thata DNA sample collected at home in contrast to conventional
collection and laboratory testing performed at a hospitallaboratory or a commercial reference laboratory. Accordingly,
some health care professionals have raised concerns about theaccuracy and reliability of DTC genetic test results. It is consideredvery important to improve the prevention of chronic disease in
pre-disease stage by helping to maintain good health because ofsoaring medical expenses associated with aging population. Under
such circumstances, the current situation and problems of DTC
testing, including genetic medicine are discussed.

DTC Testing in Pre-Disease StageNinety percent or more of the clinical specimens collected athospitals have been tested through outsourcing to commercial
reference laboratories in Japan. Japan’s clinical testing market
is estimated to be about 6billion USD, and the global market isestimated at between 60 to 70 billion USD in 2017. The annual
growth rate is expected to be on average 2 to 3 percent. The ratioof the number of genetic tests to the entire number is expected tobe higher in the major commercial clinical reference laboratories
rather than individual hospitals. More than 90% of all nucleic acidtests in hospitals are derived from the testing for infectious disease.
The global market for these genetic testing except infectious disease
is estimated at 6 to 7billion USD in 2017. Currently, chromosome
DNA and genetic testing have mostly been outsourced except for
certain research uses in Japan. On the other hand, the DTC test has
allowed detecting personal predispositions, not through hospital,
but by taking advantage of self-obtained samples. The Japanese
DTC market is estimated to be about 50 million USD in 2017. In
recent years, there has been an explosive growth in this market
because of the major capital investments. One of the reasons
behind this has been the improved convenience via non-invasive
J Hum Bio & Health Edu, an open access journal

sampling without drawing peripheral blood. Therefore, the DTC
market can meet consumer demand for its convenience at a lower
cost than that of genetic testing in hospitals. In the meantime,the entry into the DTC market of America’s private companies
facilitated collection and analysis of human DNA from all over theworld. Personal genetic information from all over the world, havebeen accumulated for the purpose of providing regional diseasedevelopment data and genetic databases for drug discovery. InJapan, the most frequently used DTC genetic test is a personal
predisposition to certain diseases including lifestyle-relateddiseases as compared to serious genetic disorders. The reasons are
as follows:
1) The incidence rate of severe genetic disorders per population isvery low, and thus the test cannot be expected to make a profit.
2) The genetic tests associated with lifestyle-related diseases canhelp improve a person’s lifestyle by following a proper exercise
or diet.
3) Dietary supplement businesses have less demanding regulatory
obligations compared to pharmaceutical medicines.
4) There is a possibility of widespread use of the DTC genetic tests
as it is used at beauty salon, fitness clubs, and gyms.
At the same time, there has been some movement in thegovernment’s regulation of DTC genetic testing. The genetic tests
for child geniuses in fields such as music and art often provide
questionable interpretations. In particular, DTC genetic testing iscalled direct-to-consumer-genotyping. Genetic testing was donewith samples shipped by regular mail, but more recently it has
adapted to e-commerce systems. Yahoo and DeNA, Japan’s largest
internet companies have entered into the market, and it has drawn*Corresponding author: Ryuji Kawaguchi, PropGene Inc, 2-3-4 Kouenjikita, Suginami-ku, Tokyo 166-0002, Japan, Tel No: +81-3-5356-7626;
Fax: +81-3-5356-7626; E-mail: kaw@pgi.jp
Sub Date: March 18, 2017, Acc Date: March 24, 2017, Pub Date:
March 24, 2017.
Citation: Ryuji Kawaguchi, Hiroshi Tamura and Eric Rentschler (2017)
Direct-to-Consumer Genotyping in Pre-Disease Field in Japan and theUnited States. J Hum Bio & Health Edu 1: 002.
Copyright: © 2016 Ryuji Kawaguchi, et al. This is an open-access article
distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction
in any medium, provided the original author and source are credited.
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Citation: Ryuji Kawaguchi, Hiroshi Tamura and Eric Rentschler (2017) Direct-to-Consumer Genotyping in Pre-Disease Field in Japanand the United States. J Hum Bio & Health Edu 1: 002.

considerable attention.

Genetic Testing in Pre-Disease Stage
Genetic testing has been shown to be an important marker inpredicting the current and future risks of significant diseases in
pre-disease stages. Pre-natal and pre-implantation testing arepart of the present trend and may be reliable enough to become
widely used. Recently, there has been an increasing interestin the development of a concept of personal care based on
personal genomics, through a lifestyle that matches an individual
constitution to prevent the onset of disease. It is possible to capturethe early signs of disease or state of health and symptoms. It canbe an effective means to help avoid the disease on the basis of theDTC test results. This is more likely to provide the key to successas DTC testing is considered complementary to hospital testing. A
complementary relationship will be created as long as credibility
can be ensured with the tests. DTC testing can also be a clue toeffective health management along with the test via mail. Suchtests enable early and accurate assessment of disease risk in thefuture. Commercially available testing that is personally deployed
along with a person’s environment and the DTC testing so far iscalled Personal Genome Service (PGS). The number of births isdecreasing every year and the older generations are expanding in
numbers in almost all other advanced countries. The reductionin the number or duration of hospital visits, medical cost due tothe spread of generic medicines, the number of hospital beds andtesting fee on clinical specimens will make a positive contribution
to the health care economy. The personalized medicine may play
an important role in the early detection and management of predisease states. The DTC test is often indirectly related to the diseaseor correlated disease symptoms for which it is meant to test, such as
the case of obesity, anti-aging, immune response, tendency towarddementia, and hair-loss susceptibility. Some of the genetic tests
have been performed in European testing service companies, but
the results are quite different from those in Japan. Especially in thecase of extremely rare genetic diseases, only a few institutions haveconducted the tests. Also, some of the genetic disorders common
in Europe do not occur or are of lower frequencies in Japan.
Among a number of genetic diseases, a race-specific incidence
has been reported. In particular, the frequencies of occurrence ofsingle nucleotide polymorphism (SNP) in subjects from European
and those from Japanese are often different from each other. With
regard to SNP tests from lifestyle-related diseases that are currently
being conducted, there seems not to be a significant difference inP-value between the two. A statistical significance of association
between disease and genetic predisposition testing is evaluatedusing an index of odds ratio. Odd ratios cannot indicate that aperson is affected by a particular disease, but it can give evidence
on the risks associated with the possibility of onset of diseases.
The P-value is the most commonly used statistical method inclinical research. SNPs with p<0.01 should be highly recognized
as rare diseases. The Illumia chips are commonly used for theefficient implementation of high-throughput SNP genotyping in
23andMe which has strong managerial assistance from Google,
and deCode Genetics acquired by Amgen Inc. in 2012. Some ofJ Hum Bio & Health Edu, an open access journal

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the testing companies are probably using the similar chip to thosefrom Agilent Technologies, Inc., or in-house(self-manufactured)
products, including real-time PCR or DNA sequencing.

Future Trends
There are pros and cons to the DTC genetic test in the social reaction
perspective and divergent views cannot be expected to converge.
The expert opinion of Cervinski, et al. was shown to relevant parties[1]. The Japan Society of Human Genetics has a guideline in 2008[2] (Table 1). From these discussions, comprehensive evaluation ofDTC testing is a little confusing and needs more time to achieve areliable consensus among users. The National Institutes of Health(NIH) guidelines addresses a number of issues [3]. It is important
to ensure that the test is properly validated to produce accurate
and precise results, thereby; enabling it to proceed to be used
as clinically as a genetic test. The clinical validity and utility ofgenetic tests in addition to validated analytical methods need to beappropriately applied. The DTC companies in the US and Japan
will build a better business plan in close conjunction with hospitals
and medical universities. Incorporating medical doctors and other
healthcare professionals like genetic counselors into their businesswill be an essential requirement for future PGS business strategy
and development. In the US, the testing laboratories are proceedingwith business plans for obtaining College of American Pathologists(CAP) and the Clinical Laboratory Improvement Amendments(CLIA) certificates to ensure the accuracy and reliability of thetest results. The DTC companies have promoted the acquisitionof regulatory qualifications. In Japan, the registered private clinicallaboratories will be required to respond to the improvement ofquality management by receiving ISO15189 or CAP certificates.
The DTC companies have not necessarily been successful ingrowing their businesses[4]. Many of the companies that attracted
a lot of attention in the last decade, deCode genetics, Navigenics,
Pathway Genomics and Gene Essence are not major factors today.
Meanwhile 23andMe has continued to be factor in influencing
market direction. As an example, the clinical reference laboratories
in the 1970s were founded independent from the hospital, but havesince evolved to bear a significant portion of the specimen testing
business of modern medicine. We are wondering whether the same
scenario is possible with respect to the DTC business. There seems
to be some challenging problems that need to be resolved before
the DTC market can expand into the future.
Table 1. Comments from Japan Society of Human Genetics for DTC
Genetic Testing
1. In DTC genetic testing, clinical experts, who have professional
knowledge in the fields of medical genetics, should be involvedin the process from receiving an order for laboratory test throughproper interpretation of the results.
2. Relevant guidelines should be complied with when carrying out DTC
genetic testing.
3. Public institutions should urgently consider how to supervise DTC
genetic testing.
4. Professional persons concerned, taking every possible opportunity
shall educate and enlighten the public about the basics of genetics
and the DTC genetic testing.
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Citation: Ryuji Kawaguchi, Hiroshi Tamura and Eric Rentschler (2017) Direct-to-Consumer Genotyping in Pre-Disease Field in Japanand the United States. J Hum Bio & Health Edu 1: 002.

References
1. Cervinski MA, Tsongalis GJ (2010) Direct-to-consumer genotyping: Are
we ready for a brave new world?. Clinical Chemistry 56(7): 1056-60.
2. The Japan Society of Human Genetics.

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3. How can consumers be sure a genetic test is valid and useful?. National
Library of Medicine.
4. Baudhuin LM (2014) The FDA and 23andMe: Violating the first amendment or protecting the rights of consumers? Clin Chem 60(6): 835-837.

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