Genetic counselling

2. What is Genetic Counselling?
Genetic counseling is a skill-based communication
process that employs scientific knowledge regarding
principles of human genetics and genomics,
psychological aspects of genetic disease, and
communication expertise to support individuals and
their families to understand and cope with genetic
diagnoses.

3. Genetic Counselling
A process of communication and education which addresses concerns relating to
the development and/or transmission of a hereditary disorder.

4. Genetic Counselling
• What should I do?
• What you would have done?
• What others in the same situation have done?
• Preferable to avoid being drawn into expressing an opinion
• Ask consultant to imagine how he would feel after the decision
• Consultants, not counsellors have to live with the decision

5. History
• In the 1950s, Sheldon Reed proposed the idea of a medical social
worker and promoted the term genetic counseling.
• The first program for graduate education in genetic counseling to
establish a new health-care provider, the genetic counselor, was
initiated at Sarah Lawrence College in Bronxville, New York, in 1969.

7. Definition
The complete definition of genetic counseling presented by Resta et al. in 2006
states Genetic counseling is the process of helping people understand and adapt to
the medical psychological and familial implications of genetic contributions to
disease. This process integrates the following:
• interpretation of family and medical histories to assess the chance of disease
occurrence or recurrence;
• education about inheritance, testing, management, prevention, resources and
research; and
• counseling to promote informed choices and adaptation to the risk or condition.

8. Indications for genetic counselling
• Congenital malformations
• Pregnancy loss
• Mental retardation
• Neurodegenerative disorders
• Muscular dystrophies and congenital
myopathies
• Inborn error of metabolism
• Disorders of sexual development
• Skeletal dysplasia
• Familial cancer or cancer prone
diseases
• Exposure to know or suspected
teratogen
• Consanguineous marriage
• Advanced maternal age
• Positive screening for a genetic
disorder

9. Reasons for Genetic Counselling
Based on your personal and family health history, your doctor can refer you for
genetic counseling. There are different stages in your life when you might be
referred for genetic counseling:

10. 1. Planning for Pregnancy
Genetic counseling before you become pregnant can address concerns about
factors that might affect your baby during infancy or childhood or your ability to
become pregnant, including Genetic conditions that run in your family or your
partner’s family
• History of infertility, multiple miscarriages, or stillbirth
• Previous pregnancy or child affected by a birth defect or genetic condition
• Assisted Reproductive Technology (ART) options

11. 2. During Pregnancy
Genetic counseling while you are pregnant can address certain tests that may be
done during your pregnancy, any detected problems, or conditions that might
affect your baby during infancy or childhood, including History of infertility,
multiple miscarriages, or stillbirth
• Previous pregnancy or child affected by a birth defect or genetic condition
• Abnormal test results, such as a blood test, ultrasound, Chorionic Villus Sampling
(CVS), or amniocentesis
• Maternal infections, such as Cytomegalovirus (CMV), and other exposures such as
medicines, drugs, chemicals, and x-rays
• Genetic screening that is recommended for all pregnant women, which includes
cystic fibrosisexternal icon, sickle cell disease, and any conditions that run in your
family or your partner’s family

12. 3. Caring for Children
Genetic counseling can address concerns if your child is showing signs and
symptoms of a disorder that might be genetic, including
• Abnormal newborn screening results
• Birth defects
• Intellectual disability or developmental disabilities
• Autism spectrum disorders (ASD)
• Vision or hearing problems

13. 4. Managing Your Health
Genetic counseling for adults includes specialty areas such as cardiovascular,
psychiatric, and cancer. Genetic counseling can be helpful if you have symptoms of
a condition or have a family history of a condition that makes you more likely to be
affected with that condition, including
• Hereditary breast and ovarian cancer (HBOC) syndrome
• Lynch syndrome (hereditary colorectal and other cancers)
• Familial hypercholesterolemia
• Muscular dystrophy and other muscle diseases
• Inherited movement disorders such as Huntington’s diseaseexternal icon
• Inherited blood disorders such as sickle cell disease

14. Elements of Genetic Counselling
In general, genetic counseling in relation to testing encompasses four broad
aspects:
1. information gathering and assessment regarding the client’s personal and
family medical history
2. provision of information and education about the genetic condition in question
and testing being offered, including its implications for the person considering
testing and their relatives
3. counseling to facilitate informed decision making regarding genetic testing and
prepare them for the results by exploring the psychological impact of the
genetic condition for the client and their family
4. posttest support and follow-up counseling.

15. Role of a Genetic Counselor
• A genetic counselor must not only convey to individuals and their families
information about diseases or problems they harbor but also the consequences
of testing and the potential for therapeutic intervention.
• He/She must enumerate the risks to other family members both in present and
future generations.This is filled with uncertainty and raises difficult ethical, legal
and social issues.
• Genetic counselors play a key role in educating healthcare providers and assist in
establishing standards of practice.
• Trained genetic counselors liaise with healthcare professionals, diagnostic labs
and patients.
• They also communicate with policy makers, media and the public about new and
emerging medical-genetic technologies and services.

16. Description of levels of communication as utilized in the ClinGen Resource CADRe.14
CADRe, Consent and Disclosure Recommendations; ClinGen, Clinical Genome.

17. Issues in genetic testing
• Diagnostic testing
• Predictive testing
• Carrier testing
• Prenatal testing
• Preimplantation testing
• Newborn screening
• Paternity testing

18. Outcome
• Recall
• Impact on subsequent reproductive behaviour
• Patient satisfaction (mutual?)
Support
• Follow up sessions
• Long-term support
• Late onset disorders (HD, Alzheimer)
• Patient support groups

19. Setting
• Place
• Privacy
• Quietness

20. Communication
• The counsellor
• Two way process of communication
• Sympathetic
• Guilt, anger, depression, adjustment
• Psychological and emotional factors
• Avoid technical terms
• Honest
• Answer questions

21. Information
• Latest
• Accept the limitations of science
• Lack of information
• Be truthful
• Give a summary
• Follow up visits

22. Calculating risks
• Mendelian inheritance patterns
• Penetrance, expressivity
• Delayed age of onset

23. Genetic counsellors task force (2006)
Genetic counselling is the process of helping people understand and
adapt to the medical, psychological and familial implications of genetic
contributions to disease
• Interpretation of family and medical histories to assess the chance of
disease occurrence or recurrence
• Education about inheritance, testing, management, prevention,
resources and research
• Counselling to promote informed choices and adaptation to the risk
or condition

24. Definitive diagnosis is crucial
• Etiological heterogeneity
• Different modes of inheritance (Ehlers-Danlos, Charcot-Marie-Tooth),
retinitis pigmentosa
• Contribution of molecular diagnosis in clearing the doubts

25. References
• Gaff and Macciocca (2016). Chapter 15 - Genomic Perspective of Genetic Counseling. Medical and Health
Genomics. Pages 201-212. https://doi.org/10.1016/B978-0-12-420196-5.00015-0
• Higgins (2018). Chapter 3 - Genetic Counseling. Pediatric Cancer Genetics. Pages 33-39.
https://doi.org/10.1016/B978-0-323-48555-5.00003-X
• Verhagen and Laar (2017). Chapter 6e - Genetic Counseling. Aneurysms-Osteoarthritis Syndrome. SMAD3
Gene Mutations. Pages 147-152. https://doi.org/10.1016/B978-0-12-802708-0.00016-8
• Williams (2020). Chapter 18 - Genetic Counseling. Applied Genomics and Public Health. Translational and
Applied Genomics. Pages 315-327. https://doi.org/10.1016/B978-0-12-813695-9.00018-2
• https://www.cdc.gov/genomics/gtesting/genetic_counseling.htm (Assessed on 2020-02-02)
• https://diagnostics.medgenome.com/medgenome-genetic-counselling/ (Assessed on 2020-02-02)
• http://www.geneticcounselingboardindia.com/index.html (Assessed on 2020-02-02)
• https://www.who.int/genomics/professionals/counselling/en/ (Assessed on 2020-02-02)