Informed Consent and Consent Forms in DNA Testing

Rewritten on: July 21, 2024

This article explains in detail the importance of informed consent in DNA testing, the obligation to obtain consent under the 2003 UNESCO "International Declaration on Human Genetic Data," and how seeDNA operates its consent forms.

DNA Testing and Informed Consent — Protecting Test Subjects' Rights as Required by the UNESCO International Declaration

DNA testing is an extremely high-precision method used in a variety of situations, including confirming parent-child relationships and forensic personal identification. However, genetic information is one of the most private forms of personal information, and strict international rules govern how it is handled. This article explains in detail the significance and legal basis of informed consent in DNA testing, as well as the specific procedures seeDNA Co., Ltd. follows for consent forms.

What Is the 2003 UNESCO General Conference's "International Declaration on Human Genetic Data"?

In 2003, the General Conference of the United Nations Educational, Scientific and Cultural Organization (UNESCO) formally adopted the "International Declaration on Human Genetic Data" [ref:1]. This declaration establishes an international ethical framework to ensure respect for human rights and fundamental freedoms in the collection, processing, use, and storage of human genetic data.

The declaration limits the purposes for which DNA testing may be used to the following:

• Forensic purposes (criminal investigation, identification, etc.)
• Medical purposes (diagnosis, treatment, and prevention of disease, etc.)
• Scientific research purposes
• Legal procedural purposes (paternity testing, inheritance procedures, etc.)
• Other purposes that do not infringe on human rights

Most importantly, it explicitly states that "informed consent must always be obtained when conducting testing" [ref:1]. This means that test subjects must accurately understand the content, purpose, risks, and handling of results of DNA testing, and must consent based on their own free will.

What Is Informed Consent? — Its Essence and Importance

Informed consent is a concept originally developed in the medical field, meaning consent given after receiving a full explanation, or consent based on sufficient information. It originated in the 1947 Nuremberg Code and, following the 1964 Declaration of Helsinki, spread worldwide as a core principle of medical and research ethics [ref:2].

In the context of DNA testing, informed consent must include the following elements:

1. Explanation of the purpose and content of the testing: Clearly explaining to the test subject why the DNA testing is being conducted and what methods will be used.
2. Explanation of how results will be handled: Clarifying how the test results will be used, who can access them, and how they will be stored and disposed of.
3. Explanation of risks and effects: Honestly conveying the psychological and social effects the results may have on the test subject and their family.
4. Assurance that consent is voluntary: Confirming that the test subject is consenting of their own free will, without coercion or intimidation.
5. Identity verification: Confirming that the person providing the sample is, without doubt, the test subject themselves.

In other words, in order to test an individual's DNA, that person must be given a full explanation of the DNA testing and must agree to it with understanding before a sample is collected. This principle is a universal ethical standard that applies regardless of whether the testing is legal or private.

Why Informed Consent Is Especially Important in DNA Testing

Genetic information is fundamentally different in nature from ordinary personal information such as one's name or address. Genetic information does not change over a person's lifetime and is shared among blood relatives, meaning that once it is leaked, there is no way to undo the damage [ref:3]. In addition, genetic information can reveal information the individual may not want disclosed, such as disease risk or ethnic background.

Given these unique characteristics of genetic information, obtaining the test subject's full understanding and voluntary consent before collecting a sample is not a mere formality — it is an essential requirement for protecting individual dignity and human rights. This is precisely why the UNESCO declaration limits use to purposes that do not infringe on human rights and mandates informed consent [ref:1].

Legal Testing vs. Private Testing — Differences in How Consent Is Confirmed

DNA testing broadly falls into two categories: "legal testing" and "private testing." It is important to understand the characteristics of each and how consent is confirmed in each case.

For legal testing conducted by seeDNA Co., Ltd., our staff are directly present to collect the samples. In this case, staff confirm the test subject's identity using identification documents and obtain informed consent on the spot, so there are essentially no issues in confirming consent.

Private testing, on the other hand, is a different situation. In private testing, it is common for the test subject to collect the sample at home and mail it in. In this case, it is physically difficult for our staff to meet every test subject in person, making it nearly impossible to confirm everyone's consent face-to-face.

How seeDNA Handles Consent Forms and Our Request for Submission

For the reasons above, seeDNA Co., Ltd. requires the submission of a consent form when conducting DNA testing. This consent form is an important document established in the spirit of the UNESCO declaration to protect the rights and dignity of test subjects [ref:1].

We ask that the following procedure be followed when submitting the consent form.

1. Please review the contents of the consent form: All test subjects must fully understand each item described in the consent form.
2. Consent to each item: Consent must be given for every item after understanding its content.
3. Signature by the test subject in person: The test subject must sign the form themselves, by hand. Signatures by proxy are not accepted.
4. Return along with the sample: Please return the consent form together with the sample.

Important notice: If any item on the consent form is not agreed to, or if the test subject's own signature is missing, we cannot proceed with testing. This measure is in place to protect the rights of test subjects, and we appreciate your understanding.

International Trends in Informed Consent and the Situation in Japan

The importance of informed consent is reflected not only in the UNESCO declaration but also in the legal systems and ethical guidelines of countries around the world. In Japan, for example, the Japan Society of Human Genetics has established "Guidelines on Genetic Testing," which state that full explanation to and voluntary consent from the test subject are essential when conducting genetic testing [ref:4].

In addition, following amendments to the Act on the Protection of Personal Information, genetic information is now classified as "special care-required personal information," requiring particularly careful handling [ref:5]. Institutions conducting DNA testing are held to a high ethical standard that requires them not merely to receive samples and return results, but to properly manage test subjects' information and use it only within the scope of consent given.

seeDNA Co., Ltd. complies with these international standards and domestic laws, protecting the rights and dignity of each individual test subject while providing accurate and reliable DNA testing services. Please feel free to contact us with any questions.

Frequently Asked Questions

Q1. What exactly does informed consent involve?

A. Informed consent means that the test subject, after receiving a full explanation of the purpose, method, handling of results, and risks of DNA testing, consents of their own free will. The 2003 UNESCO "International Declaration on Human Genetic Data" also mandates informed consent prior to testing [ref:1].

Q2. Can I undergo DNA testing without submitting a consent form?

A. No, testing cannot proceed without a submitted consent form. Unless we can confirm the signatures of all test subjects and their consent to each item, we cannot begin testing even if we have received the samples. Thank you for your understanding.

Q3. Is there a difference in how consent is obtained between legal and private testing?

A. Yes, there is a difference. For legal testing, our staff are present in person to verify identity and obtain informed consent face-to-face. For private testing, since test subjects collect samples at home, we confirm consent through the submission of a consent form.

Q4. What is written on the consent form?

A. The consent form covers the purpose of the DNA testing, the testing method, how results will be communicated, the handling of personal and genetic information, and matters related to sample storage and disposal. We ask that each item be read carefully, and that the form be signed only after understanding and agreeing to its contents.

Q5. Why are there especially strict rules governing the handling of genetic information?

A. Genetic information does not change over a person's lifetime and is shared among blood relatives — a unique characteristic. It may also reveal information the individual did not intend to disclose, such as disease risk or ethnic background. For these reasons, international standards require more careful handling than for ordinary personal information [ref:1] [ref:3].

Q6. Who signs the consent form in the case of a minor?

A. In the case of a minor, the legal representative (usually a parent with custody) signs the consent form. However, the response may vary depending on the type of testing and circumstances, so please contact us in advance [ref:6].

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