Genetic Counseling Brook Croke, M.S., M.P.H. Genetic Counselor, CooperGenomics brook.croke@gmail.com UIUC MCB Workshop Series November 13, 2017 11/13/2017 1
OVERVIEW CELL ANATOMY GENETICS OF HUMAN DISEASE EVALUATING GENETIC RISK THE PATH TO GENETIC COUNSELING 11/13/2017 3
CHROMOSOMES ARE INSIDE THE NUCLEUS OF OUR CELLS 11/13/2017 4
CHROMOSOME STRUCTURE p Arm p Arm Centromere Centromere Two Identical Sister Chromatids q Arm q Arm ONE CHROMOSOME BEFORE REPLICATION ONE CHROMOSOME AFTER REPLICATION 11/13/2017 5
DNA STORAGE Genes within our DNA provide the instructions for the body to create proteins. Proteins help our body grow, function, and repair itself. 11/13/2017 6
GENETICS OF HUMAN DISEASE 11/13/2017 7
MUTATIONS ARE CHANGES IN GENES Mutations can be passed down from parents or they can happen sporadically. 11/13/2017 8
SOME MUTATIONS MAKE US UNIQUE Humans are >99% alike. The remaining ~1% is what makes us each unique. Mutations in some genes lead to differences in traits like hair and eye color. However, some mutations can cause genetic disease. 11/13/2017 9
TYPES OF GENETIC DISEASE + Single-gene Disorder X X Y Chromosome Abnormality Multifactorial Condition 11/13/2017 10
AUTOSOMAL DOMINANT INHERITANCE 11/13/2017 11
AUTOSOMAL RECESSIVE INHERITANCE 11/13/2017 12
X-LINKED INHERITANCE 11/13/2017 13
TYPES OF GENETIC DISEASE + Single-gene Disorder X X Y Chromosome Abnormality Multifactorial Condition 11/13/2017 14
TYPES OF GENETIC DISEASE Variations of chromosomal material X X Y Chromosome Abnormality 11/13/2017 15
NONDISJUNCTION Normal Meiosis II Normal Meiosis I Oocytes containing the correct number of chromosomes Oocytes containing the incorrect number of chromosomes Nondisjunction in Meiosis II 11/13/2017 16
MONOSOMY 11/13/2017 17
TRISOMY 11/13/2017 18
TRIPLOIDY 11/13/2017 19
COPY NUMBER VARIATION (CNV) 0 copies Abnormal 1 copy Normal 2 copies Abnormal 11/13/2017 20
RECIPROCAL TRANSLOCATION 11/13/2017 21
ROBERTSONIAN TRANSLOCATION Breakage and Rejoining NORMAL NONHOMOLOGOUS, ACROCENTRIC CHROMOSOMES ROBERTSONIAN TRANSLOCATION 11/13/2017 22
PARACENTRIC INVERSION (Does not include centromere) INVERSION PERICENTRIC INVERSION (Includes centromere) 11/13/2017 23
TYPES OF GENETIC DISEASE + Single-gene Disorder X X Y Chromosome Abnormality Multifactorial Condition 11/13/2017 24
MULTIFACTORIAL CONDITIONS + 11/13/2017 25
GENOTYPE TO PHENOTYPE Penetrance How often a genotype correlates to a phenotype Variable Expressivity The same condition has differing symptoms & severity in different people X-inactivation Random inactivation of one X chromosome in each cell Mosaicism Genetic makeup varies among cells 11/13/2017 26
MOSAICISM NORMAL CELLS CELLS WITH GENETIC CHANGE MOSAIC TISSUE CELL DIVISION 11/13/2017 27
EVALUATING GENETIC RISK 11/13/2017 28
FAMILY HISTORY 11/13/2017 29
EMPIRIC RISKS: SCHIZOPHRENIA General Population Risk of Schizophrenia: ~1% Your risk is increased if you have a family member affected with schizophrenia. Affected Relative Recurrence Risk (%) Sibling 7-10 Both Parents 45 One Parent 7-16 Identical Twin 40-50 Fraternal Twin 10-18 First Cousin 1-2 Data from: Harper PS. Practical Genetic Counseling. 7th ed. Boca Raton: CRC Press; 2010. and March of Dimes. Empiric recurrence risks for common multifactorial conditions. Genetics & Your Practice. 11/13/2017 30
ENVIRONMENTAL RISKS Advanced Maternal & Paternal Age (AMA & APA) Teratogens 11/13/2017 31
THE PATH TO GENETIC COUNSELING 11/13/2017 32
Why Genetic Counseling? 13 million Americans have a genetic disorder 10% of chronic diseases, such as heart conditions, cancer, diabetes, and arthritis, have a significant genetic component 31% of the time, physicians misinterpret results of genetic testing (NEJM 1997. 336(12):823-- 7) 11/13/2017 33
Is this the right career for you? Genetic counselors work in a variety of settings Room for movement within the field There is flexibility in work schedule (work from home options becoming more common) Patient interaction whether in clinic or working in a laboratory setting 11/13/2017 34
My Experiences Private laboratory (CooperGenomics, NxGen MDx) University clinics (SIUSOM, UICOMP) Illinois Department of Public Health Newborn Screening Program Blog writer ataxic CP, radiation 11/13/2017 35
Graduate Programs Almost 40 genetic counseling graduate programs in the US and Canada Several new programs under review, online program starting next Fall. Number of students matriculating in 2016 (including Canadian schools): 317 No additional clinical training, residency etc., go directly into the job market following graduation from ~2 yr. program 11/13/2017 36
Applying 3 letters of recommendation GRE scores Shadowing GCs Volunteer experience (crisis counseling, hospice, special olympics, etc.) 11/13/2017 37
Preparing for the interview Become familiar with hot topics in genetics https://www.cdc.gov/genomics/update/current.htm Familiarize yourself with health care laws surrounding genetics (GINA, state laws surrounding NBS) Take a look at 23andme website (good intro to direct to consumer testing) National Society of Genetic Counselors (NSGC) Genetic Task Force of Illinois (GTFI) 11/13/2017 38
SUMMARY Our understanding of molecular genetics has rapidly increased and molecular genetics is becoming an increasingly relevant and integral part of reproductive medicine Genetic counseling may be the right career for you! 11/13/2017 39
Thanks for attending! Brook Croke, M.S., M.P.H. Genetic Counselor, CooperGenomics brook.croke@gmail.com UIUC MCB Workshop Series November 13, 2017 11/13/2017 40
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