Genetic counseling is a process that involves assessing individual or family risk for a genetic disorder, explaining options, and providing support. A genetic counselor reviews family history, medical records, determines disease risk, explains hereditary concepts, arranges for genetic testing, and provides guidance and referrals. They assist with informed decision making regarding pregnancy, screening, and management options. Areas of practice include cancer, pediatric care, prenatal testing, and screening for inherited metabolic disorders. New technologies allow for expanded multi-gene panel testing to efficiently screen for multiple conditions.

1. Dr. Harpreet Singh Thukral
Assistant Professor
Department of Medicine
Govt. Medical College
Amritsar

2. Genetic counseling is a communication process
between a healthcare professional trained in
genetics and an individual or family affected
by or at risk for an inherited disorder.

3.  Promoting awareness of the medical facts of
the genetic condition
 Explaining the role of heredity in the
expression of the condition and its risk of
recurrence
 Discussing the options available for dealing
with the disorder
 Assisting families in choosing the options that
are most appropriate for them.
 Providing psychosocial support

4.  Genetic counselors are professionals trained
in the fields of genetics and psychosocial
counselling.
 They act as advocates for families affected
by genetic disorders
 They help patients understand the concepts
of heredity
 Assist them in planning for treatment of
affected individuals as well as providing
options for future offspring.

5.  Review family and medical history.
 Figure out if the patient or their family members
are at risk for disease.
 Explain how genetic conditions are passed down
through families.
 Find and give information about genetic
conditions.
 Provide information about testing options and help
patients decide whether they want testing.
 Offer guidance to help the patient make informed
choices or life plans.
 Help patients find referrals to medical specialists,
advocacy , support networks, and other resources.

6.  Has a pregnancy at age 35 years or older
 Has a history of infertility or multiple
pregnancy losses
 Has a family history of an inherited condition
such as cancer, blood disorders, neurogenic
conditions etc.
 Has a child with a chromosome abnormality
 Has a child with short stature, growth delay or
overgrowth syndrome

7. • Information gathering
- Contact with patient (review reason for appt)
- Medical and family history
- Records review
• Establishing or verifying a diagnosis
- History
- Physical exam (not by GC)

8. • Risk assessment
- Pedigree
- Recurrence risk of known condition
- Empiric recurrence risk
- Testing
• Information giving
- Discussion of natural history of a diagnosis
- Decision making
• Psychosocial assessment and counseling
- On-going client support
• Follow up
- Support resources

9. Prenatal
29%
Cancer
25%
Pediatric
13%
Others
(Monogenic
Disorders)
33%
National Society of Genetic Counselors, 2012 Professional Status Survey: Executive Summary.

11. Applications:
 Test for chromosomal foetal aneuploidies
 Advanced maternal age >35 years of age
 High risk on maternal serum screening
 High risk of pregnancy loss

12.  More prevalent in women with advanced maternal
age (AMA) i.e. >35 years old
 High risk on maternal serum screening
 NIPD vs. Invasive PND
 Early testing - early decision making
 Specificity
 Back up results - reconfirm with CVS/Amnio
 Inclusivity
 Explaining the result
 Management
 Follow-up and support

13.  50-80% of spontaneous abortion is caused by
chromosomal abnormalities such as copy
number variation (CNV) and structural
aberrants.
 Testing services are now available for all
known microdeletions/microduplication
syndromes and chromosomal numerical
aberrances.

14.  Recurrent/spontaneous miscarriages
 Symptomatic individuals
 Family members of affected individuals
 PND

16.  Majority or metabolic disorders are due to
single genes that code for enzymes that
facilitate conversion of various substances
(substrates) into others (products).
 Most metabolic disorders are inherited in an
autosomal recessive pattern.
 Part of ‘newborn screening’

17.  A disorder that affects how the
body processes a simple sugar
called galactose to produce
energy.
 Can result in life threatening
complications
 Milk products to be replaced
with formulas.
 Management: immediate
dietary intervention if
detected on NBS until
diagnosis is ascertained
 Surveillance: Routine
monitoring for accumulation of
toxic analytes, routine
developmental evaluation

18.  Thalassemia is one of the most common
single-gene disorders in the world.
 Autosomal Recessive
 Part of New Born Screening (NBS)
 Genetic testing can be done to identify
the gene mutation.
 PND/PGD

20.  Cancer – malignant tumors, are developed from
accumulation of unregulated cellular growth
 Result of gene mutations or existing gene defects
induced by various environmental and/or
congenital factors
 A series of genetic testing is available for
hereditary cancers such as breast, ovarian,
colorectal etc.
 Personalized cancer therapy (targeted,
chemotherapeutic).

21.  Family History
 Understanding the information
 Early detection and testing

22.  Test for polymorphisms
 Design a customized therapeutic strategy for
patients to reduce side effects of
medications.
 E.g. CYP2D6 gene and Tamoxifen

24.  To know if a condition in the family is
genetic
 Mendelian Laws of Inheritance
 Family of ethnic backgrounds susceptible to
specific genetic conditions.

26.  Based on target sequence capture, New
Generation Sequencing (NGS) is able to
test 145 diseases covering 13
physiological and functional systems.

27.  Can test for 145 specific disease related
mutations spanning 13 physiological and
functional systems in ONE test.
 Understanding the test, implications of results
 Explaining the results – report analysis
 Management and Support
 Follow-up
 PND/PGD

28. www.geneticcounseling.ae