Home ethical issues Genetic counseling and informed consent : law and ethics

Genetic counseling and informed consent : law and ethics

June 11, 2021

2221

This article is written by Shobhna Aggarwal, from Banasthali Vidyapith. This article surveys a portion of the contentions that will emerge in the examination and clinical settings and proposes general rules that ought to be the beginning stage for strategy investigations in the field of genetic counseling.

Table of Contents

Introduction

The new tests which are developed for genetics have some common questions like how we should use the test, in what way one should use it, how to implement the test, in what manner we should use them, and what can be done out of the results. There are more questions that are arising like should it be compulsory for every citizen, or, should it depend on the choice of the individual, the result should be confidential and not be released to a third party or any type of discrimination would occur from their genotype. These questions are answered on four concepts and they are privacy, equality, secrecy, and self-rule. Also, these ideas portray whether people choose without anyone else whether to step through the examination and what ought to be finished with the outcome.

What is genetic counseling?

Genetic counseling is a procedure where a person or his family is advised about the people who are at risk or are suffering from a genetic disorder so that some help can be provided and also they can be told about the measures through which they can adjust with the help of medical and psychological hint of the genetic contribution to the disease.

The process includes:

Suggesting the medications, treatments so that the probability of the disease occurring to the individual can be known.
Informing about the inheritance and sources of the disease.
Advising about how to make adjustments with the evolving risk of occurrence of the disease.

What can one interpret from informed consent?

The test is performed when a person starts showing symptoms or signs which are related to a particular disease. Genetic testing is done to diagnose a disease so that the treatment can be done efficiently. It is done in several conditions like Down syndrome, sickle cell disease, etc. Genetic testing also makes the family aware about the person who is suffering from the disease arising out of genes. A positive result of the test leads to the conclusion that a different gene or protein was found which is causing the symptoms and signs.

Genetic data and the family

Family matters : secrecy, disclosure, communication, and testing

Secrecy

Nowadays, it is considered that a child should know their genetic origins as it would help to assess the risk and calculate the possibility of the child to suffer from the disease and would prevent it from occurring if possible, in return. But there are families who still want to keep the genetic origins a secret, as well. Genetic information is not just normal information whereas it is information that can change the relationship of the people who are involved in it. So some families try not to share their genetic information with others or even with their family members.

Disclosure

If a person is diagnosed with a genetic disease then it is the role of the health care professionals to inform the family for the test. But if the patient decides not to disclose the result to the family then the health care workers have to violate one or the other law i.e. the ethical obstruction to tell the risk to the family members or respect the patient’s decision.

Communication

Communicating the information to a family is the discussion that is going on nowadays. Based on ethics, one can inform the family without the consent of the patient if there are chances of major harm or death.

Testing

Genetic testing is a kind of medical test that finds changes in chromosomes, genes, or proteins. The results show whether the person is suffering from a genetic disease or the probability of the person to suffer from a genetic disease. Testing genetics is considered as a way in which we can find our ancestors and from which place we belong. Some patterns are shared by the individuals who share the same ancestors. The variation would be the same in those individuals who are more close to each other.

Genetic testing in children and adolescents

This test allows the family to prevent the child from suffering from the same disease again, so the test which causes no harm to the body can be done.
If the symptoms get delayed in a child till adolescent then the test can be postponed as there is no requirement of the same.
If there are chances of some harm in the testing to the child or the adolescent, then the family can take credit after the thorough discussion.
The reasons don’t change for the child whether adopted or biological.
The ability of an adolescent to reproduce should not be done on the request of the parents, but it can be done on the request of the adolescent for the family planning.
Histo-compatibility of children to act as stem cell donors can grant permission for this.

Prenatal diagnosis, prenatal screening, and disability

Prenatal testing is the best way to diagnose a child from prenatal functional changes, it leads us directly to the cause in some of the cases and proper treatment can therefore be provided. But there are confusions regarding the test like which test should be preferred or when the test should be done. Right now there is no agreement for prenatal screening. So the awareness regarding the same is not that much in our citizens. Prenatal diagnosis also helps in conditions where no affected child is born but still, the family is suffering from that genetic disorder. Screening of the test is available in both private as well as the public sector in India. In India, there are no policies regarding prenatal testing but it should be available as this would decrease the number of children having serious genetic disorders and disability.

Consent and recontacting

ACMG (American College Of Medical Genetics And Genome) initially said that the result should be returned without consent was having some flaws but still, they had some useful effect like:

It started a debate and generated interest.
Restrained the competition between researchers and companies.
It leads us to think there are two different conditions, where a general genetic test is done on the child here there is genetic history for a particular disorder or when there is no awareness to the family of genetic counseling and they are suffering from the disease which is as serious as death.

The consent for the testing is usually given by the parents of the child for the betterment of the child. In the U.K. there is no demarcation for the age at which the child will take the decision or the parents would take the decision. A child of fewer than 16 years can take full interest in the medical procedure and can give his or her views but the consent would be signed by the parents. Even the young ones can also take part in the decision making. At the age of 16-18, either parents or children can give consent for the prognosis. Above 18 years, the patient can take the responsibility and give the consent, but in this condition, the maturity is checked of the patient, if the maturity is lacking then the consent right is given to their parents. As mentioned earlier a child below 16 can either refuse or accept the consent, but the child should be mature enough to take the decision. Gillick competence is a term given in common law of England and Wales, where it is decided whether the child (below 16 years of age) can give their own consent and have thorough knowledge and understanding of the treatment, without taking the opinion of their parents.

For adults, capacity is framed as the ability, with support if necessary, ‘to understand the information they are given; weigh up the information, and communicate their decision’. It is important to appreciate that capacity is not a single attribute but varies, being specific to the particular question at issue, and even fluctuating with the same person over time.

Genetic data, insurers, and employers

Genetic information can help in diagnosing the disease to make sure that early treatment can be done. But this genetic information can also be used for the purposes of getting the job. Insurers can use the genetic information as medical data. Employers would also think of assessing the genetic information so that they can know about the ability of the person to work or the strength. Employers can also use the knowledge of genomes for the safety of others. Some of the individuals can disclose their genetic information so that they will pay fewer premiums or those people who are susceptible to disease might use it. So the impact of using genetic information in places where medical is of no concern should be given proper attention. Any type of discrimination should not occur from the genetic information, should also keep in mind.

In respect to insurance, the solution given is:

Forbid of insurers to use genetic information completely.
Should be banned below a particular amount.
Adaptation of moratoria in European countries.

Countries, where there is no law regarding genetic information, have presented some bills for the same. Using genetic information has been used for many years by insurance companies and the people are denied or have been asked to pay a high premium based on genetic information.

Quality control in genetic testing

Quality should be applied to all aspects of the procedure of genetic testing. The test should give a proper result and the laboratory should be capable of performing the test in the first place. Not only the test should be correct for good quality but also a clinical meeting should also be held with the patient so that the patient should know the other options, the results which may come and the patient’s (or parents’) consent should be taken.

After the test is done and the results are out, the patient should know the conclusion, and should be counseled and should know the support system even if there are no chances of cure. Decisions that are major usually depend on the genetic testing results: the accuracy level of the test is very important but at the same time, the communication between the patient and the doctor is also considered a very important part of the process. The main role here is also of the government to make sure the test is performed safely and no malfunction is happening. In the U.S. various systems are involved in performing the test like FDA and CCD.

Appropriate roles of the public agencies, the private health practitioners, and the laboratories

There are various public agencies for roles like local, state, and federal. Their roles are described below:

Local public health agencies

LHD has a complex role to play as they deliver basic services to most of the population in the country. In the U.S. there are almost 3000 departments that differ in size. Population economical system and they are responsible for them.

State public health agencies

In the US there are almost 56 systems for state agencies. Some agencies are alone and doing their work while some of them have been doing it under the government agencies. And their aim is also different.

Federal public health agency

They are as important as they are for the development of public health and particularly the education of the same. The role of them is to educate people, helping schools to educate and infrastructure also.

Private practitioners

The private sector is a very vast sector. It is considered more regularly than government agencies. Public laboratories mainly function on group status. They perform limited testing and disease observation. They also provide training for the test and support emergency conditions.

Laboratories

Local public health laboratories

Their data is also used by makers who want to know the health of the community, how to support them, and make public health decisions.

State public laboratories

In-state public laboratories local laboratories may help and support the state laboratories. Local laboratories can collect and test the specimen but they have to forward the results to the state laboratory for confirmation.

Value-neutral education and counseling for persons considering testing

The genetic test is very important but it may get explicit by the population. So the counselor must know the facts, the family’s experiences with the disorder, and their definition of illness. By knowing these factors the counselor would be able to find the solution on how to tell the values to the family.

Use of test results in insurance, employment, and other settings

Genetic information can help in diagnosing the disease to make sure that early treatment can be done. But this genetic information can also be used for purposes where medical is not involved like insurance and for the objective of the job.

The ambition of insurers

The insurers just want to gain profit from genetic information. So those who undergo genetic testing and their results are disclosed these insurers can utilize these results for their own profit but this can affect the individual personally or professionally. For insurers and employers, sickness and death have different importance.

The ambition of employers

Employers should have the interest to make their workplace healthy. Some of the employers do motivate their staff members to undergo regular check-ups and maintain their health. If this has been proved that genetic screening would motivate a healthy life then employers would fund their staff members for the test. Employers actually want to check from their medical history that the training which they are giving to their staff is not going in vain and they have proper health and also for senior positions. The staff members undergo medical history or test family history and age also. Genetic information would prove that there is some disease in the individual then, directly the job would not be given to that person. There should be a balance between the gain of the insurers and the applicant and also those who are involved.

Laws regarding genetic counseling

An Additional Protocol to the Convention on Human Rights and Biomedicine concerning genetic testing for health purposes was drafted by the Council of Europe which was approved and presented by the Steering Committee on Bioethics (CDBI) on 8 June 2007, and in 26th September 2007, it was presented to the Committee of Ministers. The Articles of the Draft Protocol (8-12) highlight the information in regard to genetic tests, genetic counseling, and consent.

The above list highlights the provisions of genetic counseling. There are many other provisions (e.g. general patients’ rights acts; biomedical research acts, etc.) will be included in the detailed provisions of information given to the patient, which majorly relate to the concept of informed consent as they are not extensive enough to cover the provisions regarding genetic counseling.

Austria

Austrian Gene Technology Act – As per § 69, It is compulsory to perform non-directive genetic counseling before and after genetic testing. Counseling shall cover medical facts, test results as well as social and psychological consequences. The rule concerns both predictive and carrier (post- and prenatal) genetic testing. Austria has not signed the Convention on Human Rights and Biomedicine.

Belgium

There are no provisions in the law for genetic counseling. Belgium has not signed the Convention on Human Rights and Biomedicine.

Bulgaria

There are no provisions in the law of genetic counseling, but the Convention on Human Rights and Biomedicine were ratified and entered into force in 2003.

The Republic of Cyprus

There are no provisions of genetic counseling in law at present, but the Convention on Human Rights and Biomedicine was ratified and was enforced in 2002.

The Czech Republic

There are no provisions of genetic counseling in law at present. A proposal for an Act on Health Care is in progress and it contains a chapter on Medical Genetics that would include a provision of genetic counseling.

Denmark

There are no provisions of genetic counseling in law at present. The Ministry of internal and health affairs has issued guidelines for prenatal genetic information, counseling, and examinations that came into force in 2007.

Estonia

According to Article 11 (4) of the Human Gene Research Act, (2000), gene donors have a right to genetic counseling upon accessing their data in the Genebank.

Finland

There are no provisions of genetic counseling in law at present. The European Convention on Human Rights and Biomedicine was signed in 1997, and ratification was in process.

France

The two laws as Code civil and code de la santé publique regulate many of the bioethical issues in France. The latest big law reform, Law on Bioethics, does not explicitly mention the counseling, but Article 4 modifies the relevant article 16-10 in the Code Civil regarding testing for the genetic condition so that the patient has to be informed of nature and the finality of the test before it. Provisions on genetic counselors’ competence and their working conditions were set by. The European Convention on Human Rights and Biomedicine were signed in 1997.

Germany

A draft law on genetic tests is currently under reading in the Parliament. The draft article 12 sets explicit requirements for genetic counseling. Germany has not signed the Convention on Human Rights and Biomedicine.

Greece

There are no provisions of genetic counseling in law at present. The European Convention on Human Rights and Biomedicine were ratified in 1998 and entered into force in 1999.

Hungary

There are no provisions of genetic counseling in law at present, but a draft for a law on genetic screening, testing, and biobanking including genetic counseling was sent to the Parliament in 2005. The European Convention on Human Rights and Biomedicine were ratified and entered into force in 2002.

Ireland

There are no provisions of genetic counseling in law at present. Ireland has not signed the European Convention on Human Rights and Biomedicine.

Italy

There are no provisions of genetic counseling in law at present, but specific governmental guidelines on medical genetics were approved in 2004 that contain provisions of genetic counseling. The European Convention on Human Rights and Biomedicine was signed in 1997.

Latvia

There are no provisions of genetic counseling in law at present. The European Convention on Human Rights and Biomedicine was signed in 1997.

Lithuania

There are no provisions of genetic counseling in law at present. The Ministry of Health Care has issued a governmental order to establish national standards for genetic counseling and clinical geneticists (V-220/2003). The European Convention on Human Rights and Biomedicine were ratified in 2002 and entered into force in 2003.

Laws protecting an individual against consent

Genetic Information Nondiscrimination Act (GINA) and the Genetic Information and Nondiscrimination Act of 2008 (GINA) safeguard the genetic privacy of the public, including research participants. Section 2(5) of GINA confirms that the motive of the law is ‘to safeguard the public from discrimination and also concern the potential of discrimination. GINA’s is titled in two main titles which prohibit discrimination based on genetic information in health insurance (Title I) and employment (Title II), but the value of this legislation has been a source of some dispute. According to Section 202(b) of GINA restricts employers from requesting, requiring, or purchasing genetic information with respect to an employee (including an applicant) or a family member of the employee. Section 105 of GINA also provides that genetic information—as broadly defined by GINA — ‘shall be treated as health information’ under HIPAA, (Health Insurance Portability and Accountability Act) thereby extending the HIPAA Privacy Rule to genetic information.

Role of ethics in genetic counseling and recommendations

The patients should have a thorough knowledge of the options available.
The patient should know all the information about the disorder.
The decision that will affect their health should be taken in the presence of the patient. (not younger ones)
The results should be confidential until the family wants it to.
To suggest the patient tell their relatives who can have the same disorder.
The spouse should know the disorder as it can be a carrier. No discrimination should be there on the basis of genetic information.

Recommendations

It is recommended that:

The consent of an individual should be taken before the onset of the testing.
Practitioners should undergo training.
Screening should take place before the pregnancy, ideally, so that the family should know the risk their offspring would have.
More innovative ways can also be used.

Conclusion

Genetic counseling and testing should be an important part. The individual must know the drawbacks and the advantages of the testing thoroughly. The disclosure of the result should not be done without the consent of the patient as insurers and employers may use the information for their profit. Since this information is not mere knowledge, there should be no discrimination regarding the personal genetic information and the pay for the premium should be increased on the basis of the same.