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“Genetic Counselling : A Boon or Bane?”

Ms. Kriti Thakkar

Department of Psychology, Daulat Ram College

Development Psychology

Dr. Rajni Sahni

September 30th, 2023

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Genetics is the scientific study of genes and heredity, of how certain qualities or traits

are passed from parents to offspring as a result of changes in DNA sequence. According to

APA, the term counselling refers to professional assistance in coping with personal problems,

including emotional, behavioral, vocational, life stage problems etc. In 1947, an American

biologist named Sheldon Reed introduced the terminology – Genetic Counselling. This

interdisciplinary practice combines elements of genetics, psychology, and counselling to help

individuals and families understand their genetic risks and make informed decisions about

their reproductive and healthcare choices. It is an educational process that seeks to assist

affected and/or at risk individuals to understand the nature of the genetic disorder, its

transmission and the options open to them in management and family planning (Kelly ,1986).

We live in a society that aims for perfection in all aspects of life. So, the race of

having the “best” or “ideal” genes in one’s child is one such manifestation of the perfectionist

society. However, having little control over the combination of gene patterns has created

several problems for many families.

A genetic counselling session aims to educate the family about a hereditary problem

and its management options. It facilitates discussion about the risks and benefits of further

testing and other possibilities. A genetic counsellor assists the person and their family to

identify the psychosocial tools needed to cope with the possible consequences and further

minimises the anxiety of the family about certain issues

History of Genetic Counselling

Early in the 20th century, the study of inheritance patterns by Gregor Mendel and the

rediscovery of his findings in 1900 marked the beginning of the field of genetics. These
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studies on genetics largely focused on the inheritance of characteristics that are visible,

including blood types and eye colours.

During and after World War II, medical genetics emerged as a distinct field, with

physicians recognizing the genetic basis of diseases like sickle cell anemia and PKU. This

period marked the beginning of genetic counselling. Although it was still in its infancy, but

healthcare providers began to offer guidance to individuals and families affected by genetic

conditions.

The practise of genetic counselling became officially recognised in the 1960s. A

Committee on Genetic Counselling was founded by the American Society of Human

Genetics (ASHG) in 1969, and it was essential in establishing the profession

Significant progress was made in genetic testing and prenatal diagnosis during the

1970s. Genetic abnormalities in foetuses can be diagnosed through procedures like chorionic

villus sampling (CVS) and amniocentesis. The field of genetic counselling was broadened to

encompass prenatal and reproductive counselling.

Initiated in 1990, the Human Genome Project sought to map and sequence the entire

human genome. Genetic counselling became increasingly important as the project generated a

wealth of genetic information and raised ethical and social questions about genetic testing

and privacy.

A revolution in genetics and genetic counselling occurred with the completion of the

Human Genome Project in 2003.The area grew to include personalised medicine, which

utilizes the genetic data to customise medical interventions based on a patient's unique

genetic composition.
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Genetic counsellors started collaborating more closely to incorporate genetic

information into patient care with medical professionals in a variety of disciplines, such as

cardiology and cancer.

The field of genetic counselling continues to evolve, with an emphasis on addressing

ethical, legal, and social issues related to genetics. With the growing use of technology,

telemedicine and remote genetic counselling services have become more prevalent, thereby

expanding access to genetic counselling.

Role of Genetic Counselling

Genetic counsellors help identify families at possible risk of a genetic condition by

gathering and analyzing family history and inheritance patterns and calculating chances of

recurrence. One of the most critical aspects of genetic counselling is assisting couples in

making informed decisions about family planning. A lot of couples or healthcare providers

suggest going through prenatal testing.

Prenatal diagnosis of a genetic condition can give way to treatment through fetal

medicine. Some of the prenatal diagnostic methods can be chorionic villus sampling (taking a

sample of tissue from the placenta to test for chromosomal abnormalities), amniocentesis

(procedure used to take out a small sample of the amniotic fluid for testing.), ultrasound (an

imaging method that uses sound waves to monitor the growth and development of the foetus)

etc.

Moreover, genetic counselling extends beyond the technical aspects of genetics; it

provides crucial psychological and emotional support to individuals and families dealing with

the implications of genetic conditions. Genetic counsellors consider the dynamics within

families and provide guidance on how to communicate genetic information to family

members. They further help the clients develop coping strategies to manage the emotional
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challenges associated with genetic information. This may involve teaching relaxation

techniques, mindfulness, or recommending support groups.

Process of Genetic Counselling

It is not unusual for multiple genetic counselling sessions to occur and, at a minimum,

to include a pre-testing and post-testing session.

Medical and Family History: During the first counselling session, the genetic

counsellors collect detailed medical and family histories. This information helps assess the

risk of genetic conditions within the family and guides subsequent discussions and

recommendations.

Family Pedigrees: On the basic of the medical and family history gathered, the genetic

counsellors assess the risk of genetic conditions. They may apply tools like family pedigrees

(family trees) to visualize inheritance patterns and identify potential genetic risks. A pedigree

usually includes the names, birth, dates, ages, and causes of death and brief medica l

histories of the individual’s family members over three or more generations.

Awareness and Education: Genetic counsellors give families and individuals

information on inheritance patterns, genetic problems, and genetic testing that are available.

To ensure that their consumers are well-informed, they provide basic and comprehensible

explanations of complex genetic ideas. If need be, the genetic counsellors may also discuss

genetic testing options. The benefits, limitations, and potential emotional implications of

testing are all explained

Genetic Testing: After obtaining informed consent from the patient or their family, the

counsellors arrange for the test to be performed. This may involve a blood draw, saliva

sample, or other methods depending on the specific test. The samples are sent to a laboratory

for analysis.
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Analysis and Interpretation: Once the test results are available, the genetic counsellors

interpret them in the context of the individual's medical and family history. They explain the

results, whether they are positive, negative, or inconclusive, and discuss their implications.

Post Test Counselling: The post-test session involves more than the provision of

medical information and often focuses on helping families cope with the emotional,

psychological, medical, social, and economic consequences of the test results. If a genetic

condition is confirmed or if an increased risk is identified, the genetic counsellors facilitate in

developing a management plan. This plan may involve medical treatments, surveillance,

lifestyle changes, or reproductive choices. It is recommended to have long-term follow-up

and support, especially for individuals with chronic genetic conditions or those making

ongoing decisions based on genetic information.

The genetic counselling method is extremely flexible and designed to meet the

specific requirements and concerns of every client. It seeks to offer an all-encompassing

support and guidance so that people and families can make knowledgeable decisions

regarding their genetic health and well-being.

Advantages of Genetic Counselling

Early Detection and Prevention: Genetic counselling allows for the early detection of

genetic conditions, enabling proactive measures to prevent or manage them effectively. This

can include lifestyle changes, medical monitoring, and preventive measures.

Informed Decision-Making: Genetic counselling equips individuals and families with

knowledge about their genetic makeup and the potential risks of inherited genetic diseases.

This information allows them to make informed decisions about their health, reproductive

choices, and medical interventions. It empowers people to take control of their genetic

destiny, thus reducing uncertainty and anxiety

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Emotional Support: Genetic counsellors offer essential psychological and emotional

support. It can be emotionally taxing to receive a genetic diagnosis or to live with the

possibility of passing on a genetic problem. Genetic counsellors provide an empathetic and

understanding environment to assist individuals as well as families in managing the

emotional effects.

Family Planning and Reproductive Choices: Genetic counselling allows prospective

parents to assess their likelihood of passing on genetic problems to their children. This

information enables them to make informed decisions about family planning, including the

option of undergoing genetic testing during pregnancy or using assisted reproductive

technologies like in vitro fertilization (IVF) with genetic screening.

Personalized Medicine: Genetic information obtained through counselling can be used

to modify medical treatments and preventive measures according to an individual's genetic

makeup. This approach, known as personalized medicine, holds the potential to improve

treatment outcomes and reduce adverse effects.

Improved Quality of Life: For individuals living with genetic conditions, genetic

counselling offers strategies for managing their condition, improving their quality of life, and

maximizing their health potential. It can provide guidance on available treatments and

support networks.

Ethical Considerations and Challenges

Informed Consent: Obtaining informed consent for genetic testing and counselling

can be difficult. Clients may not fully understand the implications of genetic information,

leading to concerns about the validity of their consent. Hence it is suggested that the clients

must have a clear understanding of the risks, benefits, and potential consequences of genetic

testing and this requires effective communication on the part of the genetic counsellor.
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Privacy and Confidentiality: Genetic information is highly sensitive and personal. It

can be challenging to maintain confidentiality and privacy, particularly when discussing

genetic information with family members or other outside entities. So, the genetic counsellors

must adhere to strict confidentiality standards and provide clear explanations of how genetic

information will be shared, if at all, and with whom.

Genetic Discrimination: Genetic discrimination occurs when individuals are treated

unfairly based on their genetic information. Such cases of discrimination can be seen in areas

like the employment sector, education sector and other social contexts. Genetic counsellors

must educate clients about their legal protections against genetic discrimination. Such as

under Indian law genetic discrimination is a breach of Article 14, which is a fundamental

right and one could seek redressal for it.

Psychological Impact: Genetic counselling can have profound psychological and

emotional effects on clients. Learning about a genetic condition, especially one with no cure

or limited treatment options, can lead to distress, anxiety, and depression. In order to assist

clients in adjusting to the psychological effects of genetic information, genetic counsellors

must offer emotional support and counselling services.

Access and Equity: Access to genetic counselling services is not equal for all

populations, raising questions about equity in healthcare. People in the rural areas have little

to no awareness about genetic counselling and have trouble paying for the sessions as well.

Socioeconomic factors, geography, and healthcare infrastructure can create disparities in

access to genetic services, leading to unequal opportunities for individuals and families.
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Controversies surrounding Genetic Counselling

Despite its obvious advantages, the science of genetic counselling is not without

controversy. These controversies frequently centre on ethical, social, and practical concerns.

A. Genetic Testing Marketing

The rise of direct-to-consumer genetic testing companies has led to concerns about the

accuracy and interpretation of test results. Consumers may receive genetic information

without adequate counselling or support, leading to misunderstandings and potentially

harmful and hasty decisions based on incomplete information.

B. Pediatric Genetic Counselling:

Providing genetic counselling for minors raises ethical questions about the child's

autonomy and the role of parents in decision-making. It can be difficult to strike a balance

between a child's rights and interests and those of their parents.

C. Ethical Dilemmas in Reproductive Choices

Discussions regarding reproductive options, including prenatal testing, pre-

implantation genetic diagnosis (PGD), and selective abortion based on genetic information,

are common in genetic counselling. The ethical dilemma revolves around issues of autonomy,

the value of human life, and the possibility of discrimination towards people who have

certain genetic disorders.

E. Designer Babies
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A designer baby is a baby genetically engineered in vitro for specially selected traits,

which can vary from lowered disease-risk to gender selection (Ly, 2001). Designer babies

would involve altering the genetic makeup of embryos to enhance or select specific traits,

such as physical appearance, intelligence, athleticism etc. Technologies like “CRISPR-Cas9”

have opened up the possibility of editing the DNA of embryos to introduce or remove

specific genetic traits. This approach is still experimental and carries significant ethical

concerns.

Conclusion
There's no denying that genetic counselling is an effective tool with significant

potential benefits for individuals, families, and society at large. It has aided in the

advancement of personalised medicine, helped us better understand our genetic composition,

and allowed us to make informed decisions about our health and family planning. However

every coin has two sides, and genetic counselling too is surrounded by various controversies

and challenges.

In the grand scheme of things, genetic counselling, like any complex field, is neither

purely a boon nor solely a bane. Its impact is influence by several factors like social attitudes,

technological advancements etc. With the right ethical framework, responsible guidelines,

and a commitment to equity and accessibility, genetic counselling can continue to be a

blessing, improving the lives of countless individuals while reducing the potential harms and

pitfalls associated with this evolving field

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References

Berk, L. E. (2010). Child Development (9th Ed.). New Delhi: Prentice Hall

Feldman, R.S. & Babu. N. (2011). Discovering the Lifespan. New Delhi: Pearson.

Ly, Sarah (2001), "Ethics of Designer Babies" Embryo Project Encyclopedia

Santrock, J. W. (2011). Child Development (13th Ed.). New Delhi: McGraw Hill,

Sheldon C. Reed (1974) A short history of genetic counselling, Social Biology, 21:4, 332-339