Why should you see a genetic counselor? Taya J. Fallen, MS, CGC Cancer Genetics Program 312-695-0320 Northwestern Medical Group July 25, 2015
Who is a genetic counselor? • A health professional with a specialized graduate degree and experience in the areas of medical genetics and counseling • Works as a member of a health care team, providing information and support to families who have members with birth defects or genetic disorders and to families who may be at risk for a variety of inherited conditions
www.nsgc.org
Genetic Counselors
• Undergraduate Degree: Biology, Psychology, Genetics etc. • Masters in Genetic Counseling: approximately 30 programs • Two year accredited program Coursework: Genetics, Molecular Techniques, Embryology, Psychosocial Clinical rotations: Cancer, Pediatrics, Prenatal, etc. Thesis
• Board Certified by the American Board of Genetic Counselors (ABGC)
Genetic Counselors: Specialties • Historically field predominantly focused on: Prenatal/Preconception Pediatrics
• Advancing Genetic Technology/Human Genome Project Cancer/Adult Onset Neurogenetics Cardiovascular Pharmacogenetics Laboratory
Genetic Counseling Process • Information gathering Eliciting a pedigree • Risk assessment • Information giving/communication of risk Disease specific Testing options, result potential, cost, TAT, etc. • Help with decision making • Interpretation of test results • Ongoing patient support Facilitate cascade testing of family members, timing, access, locating care providers, etc. • NOT psychotherapy!
Information gathering: Eliciting a pedigree Sample pedigree
Panc Islet cell tumor
hyperparathyroidism
kidney stones
Information Giving/Communication of Risk • Discussion of disease • Associated risks/clinical picture • Assessing desire to know/use this information • Impact on current management/diagnostic odyssey • Discussion of impact on family Picture courtesy of NM CGM/GCGC
Genetic Testing • Direct Gene Testing MEN1 gene RET gene • Cost – dependant on lab used, institution vs. insurance billed $600-1500 • TATs may vary 2 to 4 weeks • Single site testing for family members of known mutation carriers $300-450 What’s needed: Copy of family member’s result
• Results by telephone at NM • Insurance coverage likely!
Decision Making • Genetic testing can be viewed as complex and confusing Results: positive, negative, variant of uncertain significance • Results can impact patient management AND risks to other family members • Insurance coverage/concerns about discrimination
True Negatives Sample pedigree
Panc Islet cell tumor
hyperparathyroidism
kidney stones
Screening • Discussion of published consensus guidelines (if available) for screening/management of at-risk individuals • Provision of recommendations to treating and primary care providers • What age to begin?
Genetic Information Nondiscrimination Act GINA (2008) • Prohibits discrimination in health coverage and employment based on genetic information • Prohibits health insurers or health plan administrators from requesting or requiring genetic information of an individual or the individual’s family members • Prohibits health insurers for using genetic test results for decisions regarding coverage, rates, or pre-existing conditions. • Also prohibits most employers from using genetic information for hiring, firing or promotion decisions, and for any decisions regarding terms of employment. • Took effect May 2009
For more information about genetic counseling and testing… • National Society of Genetic Counselors (NSGC) http://www.nsgc.org Cancer Genetics service directory • National Cancer Institute www.cancer.gov/cancertopics/genetics General expert-reviewed cancer genetics information Cancer Genetics service directory
Cancer Genetics Program
• Genetic Counselors Taya J. Fallen, MS, CGC Carmen Williams, MS, CGC Olivia Hess, MS, CGC
• Consult letters to referring/treating physicians • Appointments available through 312.695.0320 (Chicago Campus) 312-694-8973 (LF Campus)
Questions?
Thank You
