ctga 2014 week 12 - genomic medicine (color handout) · nhgri current topics in genome analysis...
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NHGRI Current Topics in Genome Analysis 2014 Week 12: Genomic Medicine
May 21, 2014 Bruce Korf, M.D., Ph.D.
Genomic Medicine Bruce R. Korf, MD, PhD Department of Genetics
University of Alabama at Birmingham
Current Topics in Genome Analysis 2014
Bruce R. Korf, MD, PhD
Financial Relationships Illumina - consultant
Accolade - Medical Advisory Board member
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NHGRI Current Topics in Genome Analysis 2014 Week 12: Genomic Medicine
May 21, 2014 Bruce Korf, M.D., Ph.D.
Abby Seth Laura
Newborn Screening
Prenatal Diagnosis
Diagnosis
Preconceptional Screening
Presymptomatic Testing
Predispositional Testing
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NHGRI Current Topics in Genome Analysis 2014 Week 12: Genomic Medicine
May 21, 2014 Bruce Korf, M.D., Ph.D.
Shortly a*er birth, blood is taken from Laura’s heel and sent to the State Newborn Screening Laboratory. Her parents are told that this is a rou?ne test. No problems are found, and no follow-‐up is needed.
Newborn Screening
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NHGRI Current Topics in Genome Analysis 2014 Week 12: Genomic Medicine
May 21, 2014 Bruce Korf, M.D., Ph.D.
Newborn Screening by Genome Sequencing?
NHGRI Newborn Screening Grants!
Newborn Screening
Diagnosis
Prenatal Diagnosis
Preconceptional Screening
Presymptomatic Testing
Predispositional Testing
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NHGRI Current Topics in Genome Analysis 2014 Week 12: Genomic Medicine
May 21, 2014 Bruce Korf, M.D., Ph.D.
Laura is now 3 and her brother Seth is 5. Seth has been experiencing developmental problems, and is diagnosed as having au?sm.
Diagnostic Testing
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NHGRI Current Topics in Genome Analysis 2014 Week 12: Genomic Medicine
May 21, 2014 Bruce Korf, M.D., Ph.D.
The Diagnostic Odyssey
Incidental Findings
photo credit: Wellcome Library
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NHGRI Current Topics in Genome Analysis 2014 Week 12: Genomic Medicine
May 21, 2014 Bruce Korf, M.D., Ph.D.
Recommendations • Constitutional mutations on minimum list should
be reported by laboratory regardless of patient age
• Laboratories should seek and report specific types of variants in genes on list
• Ordering clinician responsible for pre- and post-test counseling
• Patients may opt out of having analysis of incidental findings
List of Genes
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NHGRI Current Topics in Genome Analysis 2014 Week 12: Genomic Medicine
May 21, 2014 Bruce Korf, M.D., Ph.D.
Newborn Screening
Diagnosis
Prenatal Diagnosis
Preconceptional Screening
Presymptomatic Testing
Predispositional Testing
Laura is now married. She and her husband are considering star?ng a family and meet with her obstetrician-‐gynecologist. They are both of Northern European ancestry and are offered carrier tes?ng for cys?c fibrosis.
Preconceptional Testing
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NHGRI Current Topics in Genome Analysis 2014 Week 12: Genomic Medicine
May 21, 2014 Bruce Korf, M.D., Ph.D.
CF Carrier Screening
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NHGRI Current Topics in Genome Analysis 2014 Week 12: Genomic Medicine
May 21, 2014 Bruce Korf, M.D., Ph.D.
Genomic Carrier Screening
Newborn Screening
Diagnosis
Prenatal Diagnosis
Preconceptional Screening
Presymptomatic Testing
Predispositional Testing
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NHGRI Current Topics in Genome Analysis 2014 Week 12: Genomic Medicine
May 21, 2014 Bruce Korf, M.D., Ph.D.
Laura and her Tom are indeed found to both be cys?c fibrosis carriers. They elect to have prenatal diagnosis by amniocentesis at 16 weeks of pregnancy. The fetus is found to be a CF carrier.
Prenatal Testing
Prenatal Diagnosis
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NHGRI Current Topics in Genome Analysis 2014 Week 12: Genomic Medicine
May 21, 2014 Bruce Korf, M.D., Ph.D.
Next Generation Prenatal Screening
Genomic Prenatal Diagnosis
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NHGRI Current Topics in Genome Analysis 2014 Week 12: Genomic Medicine
May 21, 2014 Bruce Korf, M.D., Ph.D.
Newborn Screening
Diagnosis
Prenatal Diagnosis
Preconceptional Screening
Presymptomatic Testing
Predispositional Testing
Laura is now 45. She has just learned that her older sister Abby, age 49, has been diagnosed as having breast cancer. She is concerned about her own risks, given that there is a family history of others with breast cancer.
Presymptomatic Testing
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NHGRI Current Topics in Genome Analysis 2014 Week 12: Genomic Medicine
May 21, 2014 Bruce Korf, M.D., Ph.D.
Breast Cancer Prevention
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NHGRI Current Topics in Genome Analysis 2014 Week 12: Genomic Medicine
May 21, 2014 Bruce Korf, M.D., Ph.D.
Therapeutics: Common Disease
Potentiator
Corrector
ivacaftor
Therapeutics: Rare Disease
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NHGRI Current Topics in Genome Analysis 2014 Week 12: Genomic Medicine
May 21, 2014 Bruce Korf, M.D., Ph.D.
Newborn Screening
Diagnosis
Prenatal Diagnosis
Preconceptional Screening
Presymptomatic Testing
Predispositional Testing
Predispositional Testing
Laura is now 60 years old. She has been in good health. She and her husband have heard about the possibility of having genomic tes?ng, and explore the possibili?es on the internet.
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NHGRI Current Topics in Genome Analysis 2014 Week 12: Genomic Medicine
May 21, 2014 Bruce Korf, M.D., Ph.D.
Genetic Prevention
Direct-to-Consumer Testing
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NHGRI Current Topics in Genome Analysis 2014 Week 12: Genomic Medicine
May 21, 2014 Bruce Korf, M.D., Ph.D.
Consistency of Results
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NHGRI Current Topics in Genome Analysis 2014 Week 12: Genomic Medicine
May 21, 2014 Bruce Korf, M.D., Ph.D.
Pharmacogenetics
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NHGRI Current Topics in Genome Analysis 2014 Week 12: Genomic Medicine
May 21, 2014 Bruce Korf, M.D., Ph.D.
benign pathogenic
Variant of uncertain significance
Known pathogenic mutation
Mutation not present in child VUS not present in mother
Multiple Endocrine Neoplasia Parathyroid tumors
Pituitary tumors Gastro-entero-pancreatic tumors
Carcinoid Adrenocorticoid tumors
Angiofibromas, meningiomas, ependymomas, etc.
18 months old
WGS Workflow
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NHGRI Current Topics in Genome Analysis 2014 Week 12: Genomic Medicine
May 21, 2014 Bruce Korf, M.D., Ph.D.
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