Genetic Counseling. Brook Croke, M.S., M.P.H. Genetic Counselor, CooperGenomics UIUC MCB Workshop Series November 13, 2017
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1 Genetic Counseling Brook Croke, M.S., M.P.H. Genetic Counselor, CooperGenomics UIUC MCB Workshop Series November 13, /13/2017 1
2
3 OVERVIEW CELL ANATOMY GENETICS OF HUMAN DISEASE EVALUATING GENETIC RISK THE PATH TO GENETIC COUNSELING 11/13/2017 3
4 CHROMOSOMES ARE INSIDE THE NUCLEUS OF OUR CELLS 11/13/2017 4
5 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
6 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
7 GENETICS OF HUMAN DISEASE 11/13/2017 7
8 MUTATIONS ARE CHANGES IN GENES Mutations can be passed down from parents or they can happen sporadically. 11/13/2017 8
9 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
10 TYPES OF GENETIC DISEASE + Single-gene Disorder X X Y Chromosome Abnormality Multifactorial Condition 11/13/
11 AUTOSOMAL DOMINANT INHERITANCE 11/13/
12 AUTOSOMAL RECESSIVE INHERITANCE 11/13/
13 X-LINKED INHERITANCE 11/13/
14 TYPES OF GENETIC DISEASE + Single-gene Disorder X X Y Chromosome Abnormality Multifactorial Condition 11/13/
15 TYPES OF GENETIC DISEASE Variations of chromosomal material X X Y Chromosome Abnormality 11/13/
16 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/
17 MONOSOMY 11/13/
18 TRISOMY 11/13/
19 TRIPLOIDY 11/13/
20 COPY NUMBER VARIATION (CNV) 0 copies Abnormal 1 copy Normal 2 copies Abnormal 11/13/
21 RECIPROCAL TRANSLOCATION 11/13/
22 ROBERTSONIAN TRANSLOCATION Breakage and Rejoining NORMAL NONHOMOLOGOUS, ACROCENTRIC CHROMOSOMES ROBERTSONIAN TRANSLOCATION 11/13/
23 PARACENTRIC INVERSION (Does not include centromere) INVERSION PERICENTRIC INVERSION (Includes centromere) 11/13/
24 TYPES OF GENETIC DISEASE + Single-gene Disorder X X Y Chromosome Abnormality Multifactorial Condition 11/13/
25 MULTIFACTORIAL CONDITIONS + 11/13/
26 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/
27 MOSAICISM NORMAL CELLS CELLS WITH GENETIC CHANGE MOSAIC TISSUE CELL DIVISION 11/13/
28 EVALUATING GENETIC RISK 11/13/
29 FAMILY HISTORY 11/13/
30 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 Fraternal Twin First Cousin 1-2 Data from: Harper PS. Practical Genetic Counseling. 7th ed. Boca Raton: CRC Press; and March of Dimes. Empiric recurrence risks for common multifactorial conditions. Genetics & Your Practice. 11/13/
31 ENVIRONMENTAL RISKS Advanced Maternal & Paternal Age (AMA & APA) Teratogens 11/13/
32 THE PATH TO GENETIC COUNSELING 11/13/
33 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 (12): ) 11/13/
34 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/
35 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/
36 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/
37 Applying 3 letters of recommendation GRE scores Shadowing GCs Volunteer experience (crisis counseling, hospice, special olympics, etc.) 11/13/
38 Preparing for the interview Become familiar with hot topics in genetics 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/
39 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/
40 Thanks for attending! Brook Croke, M.S., M.P.H. Genetic Counselor, CooperGenomics UIUC MCB Workshop Series November 13, /13/
41 Pioneers and Global Leaders Advancing Reproductive Genetics 2017 CooperSurgical, Inc. All Rights Reserved.
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