Genetic counseling is a vital scientific and medical process that helps individuals and families understand their risk of inherited diseases and make informed decisions about health, reproduction, and prevention. This article provides a comprehensive overview of genetic counseling, its purposes, and when it is recommended—such as before marriage, during pregnancy, in cases of infertility, or when a family history of genetic disorders exists. It distinguishes between genetic counseling and genetic testing, explains the role of a genetic counselor, and highlights how counseling contributes to early diagnosis, targeted testing, and personalized health strategies. The article also addresses common questions about the accuracy of genetic tests, insurance coverage, and the benefits of preventive action. Supported by credible scientific sources, this guide empowers readers to consider genetic counseling as a proactive step toward a healthier future.
Genetic Counseling: A Scientific Guide to Preventing Genetic Disorder
:Authors
Javad Safdari Lord, M.Sc. in Human (Medical) Genetics, Tehran University of Medical Sciences
Dr. Maryam Ahani, Medical Genetics Specialist, Shahid Beheshti University of Medical Sciences
Scientific Department of Rahsa Pathobiology and Genetics Group
Every informed decision is a step toward a healthier life
All scientific content on this website is approved by the medical-scientific team of Rahsa Pathobiology and Genetics Group
:Questions Answered in This Article
? What exactly is genetic counseling and how is it done
? When should you seek genetic counseling
? Who is a genetic counselor and what do they do
? Is genetic testing always necessary
? What is the purpose of genetic counseling
? How does genetic counseling differ from genetic testing
? Common questions about genetic counseling
? What Is Genetic Counseling
Genetic counseling is a medical-scientific process that helps individuals and families understand the potential risks of inheriting genetic disorders and make informed decisions regarding pregnancy, marriage, treatment, or prevention. With increased public awareness and advances in genomics, genetic counseling is now a core component of personalized medicine
In this process, a certified genetic counselor (a specialist in human or medical genetics) reviews family history, constructs a genetic pedigree, analyzes test results, and provides recommendations for further testing, medical follow-up, or preventive actions
?When Should You Seek Genetic Counseling
:Genetic counseling is recommended in various scenarios, such as
Before Marriage
Especially in consanguineous marriages (even distant relatives).
Increases the risk of transmitting defective genes. Counseling can prevent the birth of children with autosomal recessive disorders.
Also advised in non-consanguineous marriages under specific conditions.
For screening common diseases such as thalassemia, sickle cell anemia, inherited metabolic disorders,
SMA,
DMD, etc.
Before or Early in Pregnancy
If there is a family history of a specific disorder.
If the mother is over 35 years old.
For decisions regarding PGT, first-trimester screening, or
NIPT.
With a Family History of Genetic Diseases
For conditions like hereditary cancers (e.g., BRCA1/2), hemophilia, muscular dystrophies, or rare genetic disorders.
In Cases of Infertility or Recurrent Miscarriage
Particularly important for women with multiple miscarriages, abnormal pregnancies, or advanced maternal age.
If a Previous Child Has a Genetic Condition
For congenital anomalies, developmental delays, or intellectual disabilities.
Helps identify the cause, recurrence risk, and guide future family planning.
For Interpretation of Genetic Test Results
Genetic test results can be confusing or misleading without proper interpretation. A genetic counselor provides accurate, scientific, and ethical guidance.
Genetic Counseling in Pregnancy and Healthy Births
:A key goal is reducing the risk of fetal anomalies and ensuring a healthy birth. Counseling is applicable
Before Pregnancy-Carrier screening of parents
During Pregnancy- In cases of high-risk factors (age, abnormal ultrasound, suspicious screenings)
After Birth– If newborn shows signs of abnormalities
Tests may include NIPT,
amniocentesis,
CVS, or gene sequencing (for monogenic diseases)
Genetic Counseling in Hereditary Cancers
:Some families have a higher risk of cancer. Common hereditary cancers
Hereditary breast cancer (BRCA1, BRCA2)
Hereditary colorectal cancer (HNPCC or Lynch syndrome)
Ovarian and prostate cancer
A genetic counselor evaluates family history and test results to estimate risk and provide preventive or early detection strategies
? Who Is a Genetic Counselor
:A genetic counselor is a medical genetics specialist or a general practitioner with genetic counseling training who can
Analyze genetic data and construct pedigrees
Estimate disease risk in families
Interpret test results using scientific databases (ClinVar, OMIM, GeneReviews, etc.)
Provide personalized recommendations for managing genetic risks
? What Happens in a Genetic Counseling Session
Review of detailed family history (up to three generations)
Pedigree construction
Explanation of inheritance patterns (recessive, dominant, X-linked, mitochondrial)
Risk estimation for future generations (percentage-based)
Recommend and explain suitable
genetic tests (e.g., karyotyping, gene sequencing, mutation analysis, array CGH, WES)
Interpret results and offer preventive, therapeutic, or care options
? Is Genetic Testing Always Necessary
No. One benefit of genetic counseling is avoiding unnecessary testing. Only tests that match the individual’s risk profile are recommended, reducing costs, stress, and improving accuracy
Goals of Genetic Counseling
Prevent birth of children with hereditary disorders
Improve chances of healthy pregnancy
Empower informed decisions regarding marriage or pregnancy
Identify high-risk individuals for preventive or therapeutic follow-up
FAQs
?Do all people need genetic counseling
No. It is recommended for those at risk of hereditary disorders, such as consanguineous couples, those with family history, infertility, or recurrent miscarriage
?How accurate are genetic tests recommended post-counseling
Depends on the test. Some (e.g., karyotyping) are highly accurate; others estimate risk (e.g., pregnancy screening). Accuracy ranges between 95-99%
?Is genetic counseling mandatory
No. It’s an informative process. The final decision is up to the individual or family
?Does insurance cover genetic tests
Some supplementary plans may cover certain tests. Basic insurance often does not
?How long does counseling take
Sessions last 30–60 minutes. Complex cases may need multiple sessions
?What is the difference between pre-pregnancy and in-pregnancy tests
Pre-pregnancy: Carrier screening in couples
During pregnancy: Assess fetus via screening or diagnostic methods
?Can counseling prevent the birth of a child with genetic disease
Yes. With preimplantation testing (PGD), many genetic conditions can be avoided
?Can it predict future disease risk
Yes. Some tests assess predisposition to cancer, Alzheimer’s, heart disease, etc., aiding in prevention and management
Prevention is the best treatment. Know your genetics, shape your future
For more information, call: 021-79227
Our team at Ghadirkhom Genetic Lab is ready to assist you
: References
1. National Society of Genetic Counselors (NSGC) – [https://www.nsgc.org](https://www.nsgc.org)
2. American College of Medical Genetics (ACMG) – [https://www.acmg.net](https://www.acmg.net)
3. GeneReviews, NCBI – [https://www.ncbi.nlm.nih.gov/books/NBK1116/](https://www.ncbi.nlm.nih.gov/books/NBK1116/)
4. Biesecker, B. B. (2001). Goals of genetic counseling. *Clinical Genetics*, 60(5), 323-330.
5. Biesecker, B. B., Peters, K. F., & Resta, R. (2019). *Advanced genetic counseling: Theory and practice*. Oxford University Press.
6. World Health Organization (WHO) – [https://www.who.int/health-topics/genomics](https://www.who.int/health-topics/genomics)