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Understanding Genetic Testing Meron Azage, MS, CGC Certified Genetic Counselor Learning Objectives Understand the role of the genetic counselor /geneticist Review components of a genetic counseling session Review basic genetic concepts Overview of types of genetic tests Review legal/ethical issues The Role of the Geneticist • • • • Physical exam Generate a differential diagnosis Order appropriate testing Establish/ confirm a diagnosis – Not always possible The Role of the Geneticist • Practice evidence-based medicine - Recommend screening, management and treatments strategies • • Provide a referral to other specialists Apply ethical, legal, and social issue principles • Maintaining patient privacy What is Genetic Counseling? “Genetic counseling is the process of helping people understand and adapt to the medical, psychological, and familial implications of genetic contributions to disease.” NSGC 2005 What is Genetic Counseling? Genetic counseling services span the life cycle ◦ From preconception counseling to infertility evaluation ◦ Prenatal genetic screening and diagnosis ◦ Pediatric – Children with multiple birth defects or developmental delay – Children with a known genetic conditions ◦ Predisposition evaluation and genetic diagnosis for a growing number of adult onset conditions. What happens in a genetic counseling session? Elicit medical history Take family history If a diagnosis is known, discuss natural history and inheritance of condition Discuss relevant genetic testing ◦ Offer testing to appropriate family members Provide resources/ make necessary referrals Pedigree Diagram that records the family history information An essential component of genetic counseling ◦ They provide the basis for making a diagnosis, determining risk, and assessing the needs for patient education and psychosocial support Types of Inheritance Patterns Chromosomal Autosomal Dominant Autosomal Recessive X-Linked Methylation defect Mitochondrial De Novo Multifactorial Autosomal Dominant Autosomal: genetic change is on the autosomal chromosomes Dominant: a change on one of the chromosomes is enough to cause disease Affects every generation Affects males and females equally Achondroplasia Changes in the FGFR3 gene on chromosome 4 Short stature, enlarged head, respiratory problems, ear infections Achondroplasia Types of Genetic Testing Clinical ◦ ◦ ◦ ◦ ◦ ◦ Carrier testing Preimplantation testing Prenatal testing Newborn screening Diagnostic testing Predictive and presymptomatic testing Research Clinical whole exome sequencing The human exome is made up of all the exons (functionally important parts of the gene translated into proteins). The exome is less than 3% of the entire genome. In the exome, about 85% of disease causing changes/ mutations happen. This test looks at over 20,000 proteincoding genes. What is the exome? Genetic Counseling Code of Ethics The counselor-client relationship is based on values of care and respect for the client’s autonomy, individuality, welfare, and freedom. Informed Consent Who is consenting? Are all the options presented? Does the patient understand the options? Is the patient capable of giving consent? Genetic Discrimination GINA is a law. Genetic testing results cannot be used to discriminate by health insurance or employers ◦ Does not cover life, long term care or disability insurance Resources American Board of Genetic Counselors ◦ Abgc.net National Society of Genetic Counselors ◦ www.nsgc.org National Institute of Health – Genetic Disorders ◦ http://health.nih.gov/topic/GeneticDisorders My family health portrait ◦ https://familyhistory.hhs.gov/fhh-web/home.action QUESTIONS ?