Genetic counseling: Closing the loop


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Genetic Counselor:

The genetic counselor is a health professional academically and clinically prepared to provide genetic services to individuals and families seeking information about the occurrence, or risk of occurrence, of a genetic condition or birth defect. Practicing as part of a genetic services delivery team, the genetic counselor communicates genetic, medical, and technical information in a comprehensive, understandable, nondirective manner with knowledge of and insight into the psychosocial and ethno cultural experiences important to each client and family. The counselor provides client-centered, supportive counseling regarding the issues, concerns, and experiences meaningful to the client's circumstances.

Genetic CounsellorFunction:

■ The predominant activity of genetic counselors is consulting with individuals (and/or their families) with birth defects or genetic disorders and who may be at risk for a variety of inherited conditions.

■ They identify families at risk, investigate the problem(s) present in the family, interpret information about the disorder, analyze inheritance patterns and risks of recurrence, and review available options with the family.

■ Genetic counselors also provide supportive counseling to families, serve as patient advocates, and refer individuals and families to community or state support services.

■ They serve as educators and resource people for other health care professionals and for the general public. Some counselors also work in administrative capacities. Many engage in research activities related to the field of medical genetics and genetic counseling.

■ In addition to direct contact with couples and individuals to provide genetic counseling services, most genetic counselors devote professional time to medical professional education, public education, grant writing, and research, as well as serving on national genetics and related professional boards and national, state, and regional health/genetic services delivery committees.


The genetic counselor is a health professional academically and clinically prepared to provide genetic services to individuals and families seeking information about the occurrence, or risk of occurrence, of a genetic condition or birth defect. Practicing as part of a genetic services delivery team, the genetic counselor communicates genetic, medical, and technical information in a comprehensive, understandable, nondirective manner with knowledge of and insight into the psychosocial and ethno cultural experiences important to each client and family. The counselor provides client-centered, supportive counseling regarding the issues, concerns, and experiences meaningful to the client's circumstances.

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  • As the previous speakers have already spoken in detail about the current options for PND, I will focus mainly on non-invasive prenatal diagnosis (NIPD) and its relevance to GC.
  • 1. Couples that wish to have a non-invasive fetal aneuploidies test for trisomy21, 18 and 13.2. Couples whose age is 35 or above and do not choose to receive invasive prenatal tests.3. Women whose serum biochemical tests and ultrasound examinations suggest high risk of chromosome aneuploidies in the first and second trimester screening tests.4. Women who have contraindication of invasive prenatal testing, such as placenta previa, risks of miscarriage, HBV infection and HIV infection, etc.5. Couples that have undergone IVF, or previously suffered from habitual abortion.
  • Prevalence highly dependent on maternal age 1/1445 at age 20 and 1/25 at age 453. No risk of miscarriage besides that associated with any pregnancy as the test does not touch the foetus. 1 in 100 for CVS 1 in 200 for Amnio4. (12 + turn around time 2 = 14 weeks) of pregnancy, this can help with early decision making if the couple decides to terminate the pregnancy, or if not, with future planning and mental preparation The test detects >99% of pregnancies affected by Down syndrome. The false positive rate is <1%.All chromosomal aneuploidies can be detected in one test
  • Under the vast umbrella of PND, another comprehensive test available is that for the analysis of chromosomal microdeletions and duplications . Microdeletions and microduplication syndromes, caused by chromosomal microdeletions and microduplications have a variety of phenotypes including developmental delay/mental retardation, dysmorphic features and congenital malformationsGenetic factors could be analyzed to provide guidance for the couples’ pregnancy with the history of spontaneous abortions and also to assist clinical diagnosis for the cause of congenital malformation
  • 1. Those with a history of recurrent miscarriages, stillbirths etc.2. For clinically suspected patients with indicative phenotypes.Those with children with congenital malformations, developmental delay3. For family members of clinically suspected patients, especially parents and siblings4. Pre-natal testing – comprehensive service
  • Now I shall briefly talk about the area of pediatric genetic counseling. This kind of genetic counseling is what occurs once the baby is born and some genetic condition is detected soon after birth usually in the NBS programme.
  • The most common type of pediatric genetic counseling revolves around Inborn errors of Metabolism that are picked up on the NBSIn most of these disorders, problems arise due to accumulation of substances which are toxic or interfere with normal function, or to the effects of reduced ability to synthesize essential compounds.Traditionally the inherited metabolic diseases are categorized as disorders of carbohydrate, amino acid, organic acid, or lysosomal storage disorders. In recent decades, hundreds of new inherited disorders of metabolism have been discovered and the categories have proliferated.
  • 1. People with galactosemia are unable to fully break down the simple sugar galactose. Galactose makes up half of lactose, the sugar found in milk. The other sugar is glucose.2. If an infant with galactosemia is given milk, substances made from galactose build up in the infant's system. These substances damage the liver, brain, kidneys, and eyes.3. Persons with galactosemia cannot tolerate any form of milk (human or animal). The symptoms includeConvulsions,Irritability,Lethargy,Poor feeding (baby refuses to eat formula containing milk),Poor weight gain,Yellow skin and whites of the eyes (jaundice),Vomiting
  • mainly distributed in the Mediterranean region, Middle East, Africa, India and Southeast AsiaIf parents are carriers; their offspring have a 25% chance of being “normal”, 50% chance of being ‘carriers’ and 25% chance of being ‘thalassemia major’.NBS (simple heel prick test) detects thalassemia, however cannot determine the type (α or β)Information could be used for future pregnancies (PND/PGD) or for other family members. Talk about how genetic counseling complements these tests and diagnoses
  • AFTER POINT 3: Individuals are considered to be candidates for cancer risk assessment if they have a personal and/or family history with features suggestive of hereditary cancer. These features vary by type of cancer and specific hereditary syndrome. Criteria have been published to help identify families who may benefit from a referral to genetic counseling
  • Genetic counseling involves a comprehensive personal risk analysis and education about the genetic mechanisms related to cancer.detailed discussion of options for genetic testing and recommendations for preventive screening and treatments.If indicated, genetic testing is offered, but only after the benefits, risks and limits of each test are carefully considered. Choosing if and when to test is ultimately a very personal decision.
  • 1. Genetic testing and counseling can help provide an early diagnosis and preventive measures for high risk individuals and design a custom therapeutic strategy for patients. 2. Tests also help patients implement cancer risk management, improve the cost effectiveness and reduce side effects of medications. 3. Polymorphisms (different forms) of the CYP2D6 gene could be tested for to determine the efficacy of the common chemotherapy drug; Tamoxifen which is normally prescribed for breast cancer.
  • These cover the single, gene mutation disorders that follow the classic Mendelian Law of Inheritance.
  • These include, but are not limited to, cardiovascular system, Endocrine and metabolic system, digestive system, brain and nervous system, urinary and repro system etc. Genetic factors play a critical roles in determining monogenic diseases development and onset. Therefore identification of the causative genetic factors greatly benefits disease prevention and treatment.
  • Provides support to unknown disease diagnosis, premarital and pre-conception counseling and carrier screening in individuals without clinical manifestations. Benefits disease prevention and treatment
  • Genetic counseling: Closing the loop

    1. 1. GENETIC COUNSELING Sonika Sachanandani B.Biomed. Sc., Masters in Genetic Counseling (University of Melbourne, Australia) Genetic Counselor, Eastern Biotech & Life Sciences
    2. 2. WHAT IS GENETIC COUNSELING? 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. 3. GOALS OF GENETIC COUNSELING 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. 4. WHO IS A GENETIC COUNSELOR? 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. 5. WHAT DOES A GENETIC COUNSELOR DO? 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. 6. WHEN SHOULD A PATIENT BE REFERRED FORGENETIC COUNSELING? 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. 7. THE GENETIC COUNSELING PROCESS• 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. 8. THE GENETIC COUNSELING PROCESS (CONTD.)• 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. 9. AREAS OF GENETIC COUNSELING Others (Monogenic Prenatal Disorders) 29% 33% Pediatric 13% Cancer 25% National Society of Genetic Counselors, 2012 Professional Status Survey: Executive Summary.
    11. 11. NIPD – NON-INVASIVE PRENATAL DIAGNOSISApplications: Test for chromosomal foetal aneuploidies Advanced maternal age >35 years of age High risk on maternal serum screening High risk of pregnancy loss
    12. 12. NIPD AND GENETIC COUNSELINGCASE STUDY – DOWN SYNDROME 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. 13. ANALYSIS OF CHROMOSOMALMICRODELETION AND MICRODUPLICATION 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. 14. APPLICATIONS OFMICRODELETIONS/MICRODUPLICATIONS ANALYSIS Recurrent/spontaneous miscarriages Symptomatic individuals Family members of affected individuals PND
    16. 16. METABOLIC DISORDERS (INBORN ERRORS OFMETABOLISM (IEM)) 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. 17. CASE STUDY- CARBOHYDRATE METABOLISMDISORDER - GALACTOSEMIA 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. 18. CASE STUDY – HAEMATOLIGICAL-THALASSEMIA 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. 20. CANCER GENETIC COUNSELING 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. 21. CANCER THERAPY AND GENETIC COUNSELING Family History Understanding the information Early detection and testing
    22. 22. CANCER THERAPY AND GENETIC COUNSELING(CONTD.) Test for polymorphisms Design a customized therapeutic strategy for patients to reduce side effects of medications. E.g. CYP2D6 gene and Tamoxifen
    24. 24. GENERAL GENETIC COUNSELING -APPLICATIONS To know if a condition in the family is genetic Mendelian Laws of Inheritance Family of ethnic backgrounds susceptible to specific genetic conditions.
    26. 26. MONOGENIC TESTING Based on target sequence capture, New Generation Sequencing (NGS) is able to test 145 diseases covering 13 physiological and functional systems.
    27. 27. MONOGENIC DISORDERS AND GENETICCOUNSELING 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
    29. 29. REFERENCES