Genetic counseling

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