CBEL Report Volume 5, Issue 1

Mizuho Yamazaki Suzuki, Yuko Ohnuki, Ai Unzaki,
Kei Takeshita

LetterCan the Revised "Guidelines for Genetic Tests and Diagnosis in Medical Practice"
Exterminate the Spector of Genetic Exceptionalism over Medical Records?
Mizuho Yamazaki Suzuki 1
Yuko Ohnuki 2
Ai Unzaki 3
Kei Takeshita 4

Genetic exceptionalism over medical records is im-Diagnosis in Medical Practice" 4. The guidelines statedplementing access restrictions on genetic informationthat "if a genetic test is performed for diagnosis of anthat are not in place for general medical information on

examinee already showing signs of symptoms, the test

medical records1, which may inhibit sharing of the in-results should be recorded in the medical documents asformation “between clinical departments and between

any other clinical test, and should be in principle shared

physicians and co-medicals” 2.

by all physicians and healthcare experts involved in theIn March 2022, the Japanese Association of Medicalcare of the examinee”. On the other hand, it also stated

Sciences (JAMS) revised the "Guidelines for Genetic

that “in case the content of genetic counseling can in-Tests and Diagnosis in Medical Practice" and added afringe on the privacy issue, thoughtful response is re-

new statement that “the results of genetic testing andquired, for example, by describing and keeping the con-content of genetic counseling should likewise generally

tents of counseling separate from the usual medical rec-be documented in medical records, similar to other clin-ord.” There was no clear description of other genetic in-ical data” 2. Will this eliminate genetic exceptionalism

formation, such as asymptomatic carrier testing and pre-from the medical record in Japan?

symptomatic testing

Returning to past guidelines in 2003, the Japanese so-

Until around 2011, when the first edition of the JAMS

cieties related to genetic medicine jointly published theguidelines was prepared, the purpose of genetic testing"Guidelines for Genetic Testing,” which stipulated thatwas mainly limited to the diagnosis of single-gene dis-

general medical and genetic information linked to a spe-orders and prenatal diagnosis using chromosomes incific individual should, in principle, be stored sepa-

amniotic fluid, while genetic testing with next-genera-rately3. Eight years later, the JAMS formulated the firsttion gene sequencing was not widely available5. In re-edition of the "Guidelines for Genetic Tests andcent

1years,Department of Medical Ethics, Tokai University School of Medicine
Department of Medical Ethics, Tokai University School of Medicine
3
Department of Medical Ethics, Tokai University School of Medicine
4
Department of Medical Ethics, Tokai University School of Medicine ,Corresponding Author (E-mail: takeshita_kei@mac.com)
294

Japanese

medicalinstitutions

haveCan the Revised "Guidelines for Genetic Tests and Diagnosis inMedical Practice" Exterminate the Spector of Genetic Exceptionalism over Medical Records?

CBEL Report Volume 5, Issue 1

increasingly utilized genetic information, as exempli-

would face if their genetic information was disclosed in-

fied by insurance coverage of comprehensive genomic

appropriately by healthcare providers who lack suffi-

profiling for cancer patients5. Simultaneously, elec-

cient knowledge of genetic information handling1.

tronic medical records have spread rapidly in Japan, andWhile efforts to eliminate the possibility of discrimina-

medical information is shared among many medical de-tion based on genetic information are important, educa-partments7. Thus, more medical professionals in moretion of healthcare professionals is also crucial and more

fields than before are now practicing medicine based onpractical, as the revised JAMS guidelines stated "allgenetic information, and revising the JAMS guidelines

healthcare professionals who may have access to ge-

is considered appropriate.

netic information, which contains genetic characteris-

In 2020, the authors conducted an interview survey oftics in addition to other clinical information, should beclinical geneticists in Japan. They reported that manyeducated and trained in terms of basic knowledge about

medical institutions implemented access restriction togenetics, confidentiality, and appropriate handling ofgenetic information on medical records either by 1) seg-

personal genetic information" 2. Whether genetic excep-

regated storage as required in the "Guidelines for Ge-

tionalism, symbolized by access restrictions on medical

netic Testing" (storage segregation); 2) controlling spe-records, continues or disappears will depend on how ap-

cific items and entries in the electronic medical records

propriately the intent of the guidelines are understoodwith passwords or other means so that only authorized

and implemented.

individuals can see them (access control), or both1.
Clinical geneticists who favored access restriction cited

Acknowledgement

the absence of guidelines as the need for access re-This work was supported by JSPS KAKENHI Grant

striction1.Although the revised JAMS guidelines recom-19K24269.

mend not to implement the storage segregation as amethod of managing medical records and the issue ofReferences

the storage segregation was explained in detail in the1) Suzuki YM, Ohnuki Y, Takahashi K, et al. What

Q&A of the guidelines, they made no clear mention of

do Japanese clinical geneticists think about thethe access control despite its prevalence in many insti-inclusion of genetic information in electronic

2, 8tutions. Therefore, the authors expect that access re-striction will continue to exist in the form of access control, leading to be a potential inhibitor of information

medical records, and how do the manage it inpractice? Jpn J Gnenet Counsel 42:427-439,2021.

sharing among healthcare professionals.
So, if the JAMS guidelines prohibit access control aswell as storage segregation, will the problem be solved?

2) The Japanese Association of Medical Sciences,
Guidelines for Genetic Tests and Diagnosis inAccording to our study1, clinical geneticists expressed

Medical Practice, February 2011, Revised

concerns about the possible discrimination patients

March 2022,95

CBEL Report Volume 5, Issue 1

https://jams.med.or.jp/guideline/genetics-diag-sues in the current system. Jpn J Clin Oncol

nosis_e_2022.pdf, Accessed 7 June 2022.

52(6):599-608, 2022

3) The Japanese societies related to genetic medi-7) Ministry of Health, Labour, and Welfare, Pro-cine, Guidelines for Genetic Testing, August

motion of Informatization in the Medical Field,

2003, http://www.jsgc.jp/geneguide.html, Ac-

https://www.mhlw.go.jp/stf/seisakunitsuite /bu

cessed 7 June 2022.

nya/kenkou_iryou/iryou/johoka/index.html, Ac-

4) The Japanese Association of Medical Sciences,
Guidelines for Genetic Tests and Diagnosis incessed 7 June 2022.
8) The Japanese Association of Medical Sciences,

Medical Practice, February 2011,“Guidelines for Genetic Tests and Diagnosis in

https://jams.med.or.jp/guideline/genetics-diag-

Medical Practice” Q&A, February 2011, Re-nosis_e.pdf, Accessed 7 June 2022.

vised March 2022, https://jams.med.or.jp/guide-5) Kosugi S, Secondary Findings, Jpn J GenetCounsel 42:207-212, 2021
6) Higashigawa S, Matsubayashi H, Kiyozumi Y,
et al. Present status of germline findings in precision medicine for Japanese cancer patients: is-96

Mizuho Yamazaki Suzuki, Yuko Ohnuki, Ai Unzaki,Kei Takeshita

line/genetics-diagnosis_qa_2022.html, Accessed
7 June 2022.
Received 15 June 2022
Final version accepted 28 July 2022