Genetics Career Debra Collins, MS, CGC University of Kansas Medical Center Genetic Counseling Helping individuals and families understand how genetics affects their health and lives The Rewards Intellectual challenges Learning opportunities Patient contact/counseling Opportunities for personal growth Autonomy Genetic Counselor Career Explore family histories to identify risks Reduce effects of genetic risks with education & preventive strategies Help families learn/use coping and decision making strategies Teach Research 10 yrs d yrs 39 yrs 33 yrs 28 yrs 6 yrs14 yrs Example 3 38 yrs Autosomal Recessive Conditions Cystic fibrosis Autosomal Recessive Tay Sachs disease Autosomal Recessive Albinism Autosomal Dominant Conditions Neurofibromatosis Autosomal Dominant Huntington Disease Autosomal Dominant Marfan Syndrome X-linked Recessive Duchenne Muscular Dystrophy Trisomy 18 Chromosomal Conditions Down syndrome Trisomy 13 Turner syndrome Fragile-X Syndrome Career Paths Clinical Prenatal/Preconception Pregnant women Couples planning a pregnancy or at risk for having a baby with a genetic condition Women who have experienced pregnancy loss Pediatric Children and teenagers who have, or may have, genetic conditions such as sickle cell disease, deafness, mental retardation, birth defects Adult Counsel people with medical and genetic conditions, or a family history of a condition such as cancer, Huntington disease, Alzheimer disease Cancer genetics Cardiovascular genetics More Career Paths Public Health Raise awareness of genetics Improve access to services Outreach services Determine public policy Education Teach in high schools, colleges and universities Research Explore unanswered questions in genetics and find solutions More Career Paths Consulting Private Practice Increased autonomy and flexibility Internet Companies Develop online products related to genetics Pharmaceuticals Corporate resource for genetics expertise Industry/Laboratory Liaison between labs, referring physicians, and patients Preparation for career in genetics Learn about the field Human genome research and ethical dilemmas Treatments and tests for genetic conditions Contact a genetic counselor Gain experience working with people Volunteer crisis center, pregnancy counseling, Special Olympics Be a teaching and/or research assistant Human Genetics Research Fields Gene Mapping Protein Functions & Synthesis Different Types of RNA Pharmaceuticals Education Needed for Research Ph.D or at least Master of Science degree needed to be a head researcher Bachelors or Masters needed to be a technician Problem solving ability, creativity are essential Physician Genetics degree prepares you for medical school M.D. needed Residency and possibly fellowship needed Surgeons Physical Therapists (PhD not required) Pediatrician Dermatologists Cardiologist Nurse Bachelor of Science needed Nursing license required Health Care Fields Perinatology Amniocentesis Oncology Gene therapy Reproductive Technology Fertility clinics In vitro fertilization Dysmorphologist Pediatrician who specializes in the study of structural defects Requires 2-3 years beyond medical school concentrating on the development and prevention of genetic disorders Genetic Counselor Masters of Science, Bachelors in life science or sociology, psychology, or related field Responsibilities include: Pedigrees Prediction of likelihood of genetic inheritance Genetic Testing Patient Counseling Research Teaching High School Bachelors degree in the field you teach, teacher certification (not necessary in some states if you have Ph. D) College Professor Can include research PhD required Forensic Science Bachelors degree in science field required Masters or higher often required Certification by American Board of Criminalistics is voluntary many sub-specialties in forensics have their own board that give certifications or credentials Forensics Fields Forensic Anthropology Recovery and identification of skeleton remains Ph.D with emphasis on osteology and anatomy Forensic Odontology Dentition/teeth, DNA profiling of associated saliva samples DDS needed, board certification Forensic Toxicology Study of drugs and poisons on the human body Bachelors in science area with coursework in chemistry and pharmacology Wildlife Forensics Evidence identification dealing with illegal poaching, smuggling, selling of animals Forensic Pathology MD needed, additional fellowship in forensic pathology needed Board certification Medical Illustrator Create illustrations of medical procedures and human anatomy Work on projects for: Medical Journals Films Multimedia Websites Advertising Provide drawings for court cases Hand make human prosthetics Technical or Medical Writer Writing and Editing Medical Information Scientific Publications Slide Presentations Medical Awareness Pamphlets Newsletters Interviews Pharmaceutical Marketing Presentations Text Books Masters or PhD required Lawyer Medical Court Cases Lawyer (requires law school) Hired by a law firms to assist in providing medical background. (often requires a PhD of medical relevance) Patent Law Firms Help file/process for medical patents How often do genetic problems occur? Newborn / birth 3-5% births ( congenital malformations) 0.5% newborns ( chromosomal anomalies ) 7% still births ( chromosomal anomalies) 20-30% infant deaths ( genetic disorders ) 30-50% post-neonatal deaths ( congenital malformations ) Childhood 11% pediatric hospital admissions ( genetic disorders) 19% pediatric hospitalizations ( congenital malformations ) 50% individuals with mental retardation ( genetic basis ) Later life 12% adult hospital admissions (genetic causes) 15% all cancers (inherited susceptibility) 10% chronic diseases (heart, diabetes, arthritis) adults (significant genetic component) Family Questions Will this happen again? Why us? Is it because of something I did ? I was so careful during my pregnancy Will this happen to my sister? Will my grandchildren have it? Will there be other problems? Is intelligence affected? Will I ever be able to have a healthy baby? Genetic Counseling Overview To provide information and support to families who are at risk for (or who already have members with) birth defects / genetic conditions Purpose of Genetic Counseling Help family / individual: comprehend diagnosis, prognosis, management understand heritability, risks of recurrence understand options to deal with risk identify issues affected by risk or diagnosis chose actions appropriate for individual / family adjust to disorder / risk of recurrence refer to support services Thompson & Thompson p. 377 Adult / Pediatric Genetics Clinics family history of hereditary conditions ex: cystic fibrosis, fragile-X, neurofibromatosis new diagnosis of genetic condition child with multiple congenital anomalies, mental retardation, other ex: cleft lip/palate, neural tube defects, other presymptomatic genetic testing ex: cancer, Huntington disease, other late onset and neurological disorders consanguinity screening test follow-up other Genetic Conditions Albinism Achondroplasia Apert Syndrome Breast cancer Cleft lip/palate Congenital heart defects Cystic Fibrosis Down Syndrome Duchenne Muscular Dystrophy Ehlers Danlos Syndrome Fragile-X Syndrome > 5,000 other conditionsHemophilia Huntington Disease Marfan Syndrome Neurofibromatosis PKU Tay Sachs Trisomy 13 Trisomy 18 Trisomy 21 Turner Syndrome Von Hippel Lindau Syndrome Prenatal Genetics Clinic advanced parental age pregnancy loss, infertility teratogen exposure screening test follow-up other Genetic Information Resources Internet Genetic Conditions / Rare Conditions GeneClinicsOnline Mendelian Inheritance in Man (OMIM) ww3.ncbi.nlm.nih.gov/Omim/ PubMed Books Brochures Lay advocacy groups Library Process of Genetic Counseling Case Management I. Collection of Information II. Assessment III. Determine Recurrence Risk IV. Counseling V. Follow-up I. Collection of Information family history (3 or more generations, include ethnic information) photos may be helpful medical history (prenatal, birth records, childhood evaluations) tests and/or assessments (copy of cytogenetic, DNA, other genetic tests) 1 Numbering Generations and Individuals on Pedigree 2 II I III 10 yrs d yrs 39 yrs 33 yrs 28 yrs 6 yrs14 yrs Example 3 38 yrs II. Assessment Physical examination (child, siblings, family members, photos as necessary) Confirm or rule-out diagnosis III. Determining Recurrence Risk knowledge of genetic nature of disorder evaluation of proband, risk to relatives family pedigree Recurrence Risks Child affected Chromosome Single Gene Mutifactorial Risk for next child