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Importance of genetic counseling in medical practice: A narrative review
*Corresponding author: Hema Madhav Purandarey, Department of Medical Genetics, MedGenome Centre for Genetic Health Care, Mumbai, Maharashtra, India. hmp.learning@gmail.com
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Received: ,
Accepted: ,
How to cite this article: Purandarey HM. Importance of genetic counseling in medical practice: A narrative review. Wadia J Women Child Health. 2025;4:84-7. doi: 10.25259/WJWCH_33_2025
Abstract
As per World Health Organization (WHO) rapid advancements in genomic tools have identified etiology and risk factors of multisystemic 10,000 monogenic complex disorders affecting 10/1000, or 70–80 million individuals worldwide. Genetic counseling, a crucial part of genetic evaluation and personalized medicine, aims to inform families about genetic and genomic issues (including cancer), their effects on current and future generations’ health, and how to make educated decisions. With reference to various national and international genetic journals, this narrative review explores the role of genetic counseling, the steps followed, ethical considerations, challenges, and the impact of genetic testing on healthcare.
Keywords
Genetic counseling
Genetic testing
Personalized medicine
INTRODUCTION
For more than 50 years, genetic counselors have been in practice. Today, over 10,250 genetic counselors are thought to be spread worldwide.[1]
Due to increasing number of population screening initiatives and national bio banks requiring genetic counselors as part of the programmes, many training programmes have been developed.
However, in India, a considerable number of infants with genetic disorders (half a million with congenital malformations) are born per year, due to consanguineous marriages,[2] a high birth rate, and a lack of knowledge of genetic counseling thus intensifying the need for more genetic counselors [Table 1].
| Estimated number of GCs | No of GC training programs | Training of genetics counselor (GC) | Regulation of genetic counselor | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Country | 2022 population estimate | 2017 | 2022 | 2017 | 2022 | Year first training program started | No Under Dev'p | No Closed (Past 5 Yrs) | Degrees awarded | Length of traning (y) | No in training per year | National regulation | State or Province regulation | Professional Body regulation |
| India | 1.4 Billion | ~76 | 250 | 1MS, 1GrandDip, 2Cer | 4 | 2007 | 2 | 3 | MS, MGC | 1 to 2 | 10 to 15 | No | No | Yes |
DEFINITION AND ROLE OF GENETIC COUNSELING
In 1947, Sheldon Reed, with a doctorate in genetics, created the term “genetic counseling,” and the emotional and psychological effects of genetic conditions were highlighted.[3] Usually, postgraduate students or medical professionals with training in both genetics and counseling make up genetic counselors.
Through this non-directive form of communication, they help patients and their families in comprehending and adjusting to the medical, psychological, familial, and reproductive ramifications of the genetic component of particular health disorders. They provide emotional support, advise decision-making by outlining genetic screening, testing, and preventive measures, including prenatal diagnosis, and evaluate the risk of occurrence or recurrence of genetic conditions based on clinical and laboratory reports as well as family medical history.
Appropriate guidance through genetic counseling is vital due to the proliferation of screening and diagnostic procedures, including preconception carrier screening, made possible by the advancements in gene sequencing technology and its growing availability, accessibility, and affordability.[4]
THE PROCESS OF GENETIC COUNSELING
The genetic counseling process generally follows a structured approach.
Pre-test
Collection of family and medical history
Finding patterns of inheritance and assessing the risk of genetic diseases require a detailed review of the medical history of both spouses’ families spanning three generations which are noted in the pedigree format.
Risk assessment and education
With evaluation of probable inheritance patterns, the counselors offer information on the diagnosis, prognosis, and treatment options of the relevant condition with the aid of the pedigree and investigation reports.
Genetic testing
The genetic counselors discuss the potential efficacy, specificity, and sensitivity of genetic testing, explain the potential outcomes, especially variants of uncertain significance (VUS), the requirement of additional testing due to advancements in science and technology especially in case of VUS and the additional family history, implications for family planning, disease prevention, and treatment options.
Emotional support
Counselors provide psychological care by suggesting relevant support groups.
Actual testing
Informed consent
With a full understanding of necessary testing, the patient provides written informed consent, guaranteeing autonomous decisions regarding their healthcare.
On receipt of the same, the sample is collected and analyzed as required. The report may take 2–3 weeks on average.
Post-test
Elements of reports
The reports can diagnose chromosomal flaws/molecular variations from benign to pathogenic, with intervening scores of likely benign, likely pathogenic, or VUS.
Decision-making support
Genetic counseling involves analysis of the findings, and help people in making informed decisions about their healthcare and reproduction choices.
Follow-up and referral
It facilitates monitoring, additional testing (as required) for further prevention. Referring physicians are advised for specialized medical management as required.
Ethical considerations
Confidentiality
As genetic information is sensitive, genetic counselors ensure that the data are protected and shared, as per the law of the land.
Genetic discrimination
Genetic information should not be used against individuals.
Reproductive decision-making
Genetic counseling frequently involves highly personal discussions about reproductive choices, (prenatal testing or use of assisted reproductive technology and preimplantation diagnosis). However, ethical concerns can come up, such as who has the authority to make decisions for future generations.
Psychological impact
While breaking adverse news, genetic counsellors must be aware of the emotional and psychological trauma faced by the patient and his family.
Impact
Such genetic counselling does affect positively on the accuracy of risk assessment and guide the diagnosis, treatment, prevention, family planning and professional decisions.
Due to the recent advancements in genetic and genomic research predisposition to a range of medical conditions can be identified. This can lead to preventive personal and population based risk assessment reducing the burden of genetic conditions on the national resources [Table 2].
| Scope | Approach |
|---|---|
| Possible identification of additional conditions | Broader testing in clinical conditions |
| Increase in number of tests including pathogenic and VUS | Change in clinical validity |
| Increase in counseling time | From diagnosis to prevention |
VUS: Variants of uncertain significance.
Challenges in genetic counseling
Access and availability
As there are limited number of genetic counsellors people from remote areas and from economically backward communities get limited access to these services.[5]
Complexity of genetic information
Although with the development of genetic and genomic science the intricacies of information have expanded, the clinical explanations of VUS are mostly unclear; hence, the explanation could be difficult.[6]
Integration of genomic medicine into practice
With increasing popularity of direct-to-consumer genetic testing, genetic counsellors need to take into account potentially inaccurate reports from commercial testing and think of non-genetic causes while counseling.[7]
Cultural sensitivity
Genetic counsellors have to deal with people from various cultural strata so they need to be sensitive to the cultural differences.
The role and scope of genetic counseling
With increasing availability and advancements in genomic medicine the role and scope have expanded.
Personalized medicine
Adapting genetic counselling as per the genetic makeup of the individual is a key component of personalised healthcare. e.g. treatment plans for cancer or rare inherited diseases.
Risk reduction and preventive care
Those who are at risk for any genetic disorder can avail of preventive measures such as early screening, lifestyle changes, medical interventions along with genetic counselling.
Reproductive planning
Couples about to start a family can be guided with genetic counselling to make informed decisions regarding family planning, perinatal carrier screening, prenatal screening.
CONCLUSION
For human health and medical diseases, the genetic data like assessment of risk prediction is essential. The evolving and expanding role of genetic counseling is important for people to comprehend the genetic information and inspite of hurdles like inaccessibility, result interpretation, ethical issues, its repercussion, for reproduction it impacts the treatment and decision making. Genetic counselors will continue to play a crucial role in ensuring that people receive the direction, encouragement, and knowledge necessary to make informed decisions regarding their genetic health as genomic medicine develops. However, genetic counseling should not only focus on the particular inheritance issue that the family has brought up but it should also try to assess the individual’s overall genetic endowment.
Data availability
The related data are made available in the manuscript.
Acknowledgment:
We acknowledge the contribution and work done by all authors of the referred articles.
Ethical approval:
The Institutional Review Board approval is not required.
Declaration of patient consent:
Patient’s consent was not required as there are no patients in this study.
Conflicts of interest:
There are no conflicts of interest.
Use of artificial intelligence (AI)-assisted technology for manuscript preparation:
The author confirms that there was no use of artificial intelligence (AI)-assisted technology for assisting in the writing or editing of the manuscript and no images were manipulated using AI.
Financial support and sponsorship: Nil.
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