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Genetics Career

Genetics Career. Debra Collins, MS, CGC University of Kansas Medical Center dcollins@kumc.edu. Genetic Counseling “Helping individuals and families understand how genetics affects their health and lives”. The Rewards. Intellectual challenges Learning opportunities

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Genetics Career

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  1. Genetics Career Debra Collins, MS, CGC University of Kansas Medical Center dcollins@kumc.edu

  2. Genetic Counseling “Helping individuals and families understand how genetics affects their health and lives”

  3. The Rewards • Intellectual challenges • Learning opportunities • Patient contact/counseling • Opportunities for personal growth • Autonomy

  4. 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

  5. Example 63 yrs d. 35 33 yrs 39 yrs 38 yrs 28 yrs 3 14 yrs 10 yrs 6 yrs

  6. Autosomal Recessive Conditions Cystic fibrosis

  7. Autosomal Recessive Tay Sachs disease

  8. Autosomal Recessive Albinism

  9. Autosomal Dominant Conditions Neurofibromatosis

  10. Autosomal Dominant Huntington Disease

  11. Autosomal Dominant Marfan Syndrome

  12. X-linked Recessive Duchenne Muscular Dystrophy

  13. Chromosomal Conditions Trisomy 18 Turner syndrome Down syndrome Trisomy 13

  14. Fragile-X Syndrome

  15. 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

  16. 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

  17. 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

  18. 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

  19. Human Genetics Research Fields • Gene Mapping • Protein Functions & Synthesis • Different Types of RNA • Pharmaceuticals

  20. 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

  21. 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

  22. Nurse • Bachelor of Science needed • Nursing license required

  23. Health Care Fields • Perinatology • Amniocentesis • Oncology • Gene therapy • Reproductive Technology • Fertility clinics • In vitro fertilization

  24. 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

  25. 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

  26. Teaching • High School • Bachelor’s 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

  27. 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

  28. 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

  29. 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

  30. 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

  31. 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

  32. How often do genetic problems occur?

  33. 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)

  34. Childhood • 11% pediatric hospital admissions (genetic disorders) • 19% pediatric hospitalizations (congenital malformations) • 50% individuals with mental retardation (genetic basis)

  35. Later life • 12% adult hospital admissions (genetic causes) • 15% all cancers (inherited susceptibility) • 10% chronic diseases (heart, diabetes, arthritis) adults (significant genetic component)

  36. 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?

  37. 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

  38. 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

  39. 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

  40. Genetic Conditions Hemophilia Huntington Disease Marfan Syndrome Neurofibromatosis PKU Tay Sachs Trisomy 13 Trisomy 18 Trisomy 21 Turner Syndrome Von Hippel Lindau Syndrome 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 conditions • www.kumc.edu/gec/support/

  41. Prenatal Genetics Clinic • advanced parental age • pregnancy loss, infertility • teratogen exposure • screening test follow-up • other

  42. Genetic Information Resources Internet • Genetic Conditions / Rare Conditions www.kumc.edu/gec/support/ • GeneClinics www.geneclinics.org • Online Mendelian Inheritance in Man (OMIM) ww3.ncbi.nlm.nih.gov/Omim/ • PubMedwww.ncbi.nlm.nih.gov/entrez/query.fcgi Books Brochures Lay advocacy groups Library

  43. Process of Genetic CounselingCase Management • Collection of Information • Assessment • Determine Recurrence Risk • Counseling • Follow-up

  44. 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)

  45. Numbering Generations and Individuals on Pedigree I 6 1 2 3 4 5 II 4 5 6 1 2 3 III 1 2 3 4

  46. Example 63 yrs d. 35 33 yrs 39 yrs 38 yrs 28 yrs 3 14 yrs 10 yrs 6 yrs

  47. II. Assessment • Physical examination (child, siblings, family members, photos as necessary) • Confirm or rule-out diagnosis

  48. III. Determining Recurrence Risk • knowledge of genetic nature of disorder • evaluation of proband, risk to relatives • family pedigree

  49. Child affected Chromosome Single Gene Mutifactorial Risk for next child <1% - 100% <1%, 25%, 50% 3-5% or more Recurrence Risks

  50. Autosomal Recessive Conditions Cystic fibrosis

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