Lions and Tigers and Bears.Oh My!

Transcription

1 Lions and Tigers and Bears.Oh My! TAKING THE FEAR OUT OF GENETIC TESTING Lisa Butterfield, MS, CGC Genetic Counselor Clinical Assistant Professor University of Kansas Health System

2 Why is Genetic Testing often so intimidating to practitioners? We speak a different language WGS, WES, VUS,del/dup, etc.

3 Why is Genetic Testing often so intimidating to practitioners? We have few genetic professionals to guide us What if our patients ask us questions that we don t know the answers to? What if we don t know what the results mean or how to use them?

4 Why is Genetic Testing often so intimidating to practitioners? Genetic counselors are often the first line in aiding medical professionals with genetic information Many laboratories that perform testing now have genetic counselors who can help guide testing and interpret results for practitioners

5 Why is Genetic Testing often so intimidating to practitioners? Laboratory based genetic counselors can also aid in making sure the correct test is ordered answering the question that is being asked Lab based genetic counselors are also sometimes available to speak with patients for up to 15 minutes regarding results Patients can be referred to local genetic counselors for more in depth consultation

6 Why is Genetic Testing often so intimidating to practitioners? COST Genetic testing can cost thousands of dollars Insurance does not always see this as a covered benefit New preauthorization requirements (UCH Cigna, Amerigroup)and writing letters of medical necessity are sometimes required

7 Why is Genetic Testing often so intimidating to practitioners? Sometimes our results are fuzzy. The dreaded VUS (variant of uncertain significance)

8 New Acts in Cross-Over testing: From Prenatal to the Postnatal World Testing for Aneuploidy

9 Aneuploidy Testing Traditional: Karyotype Can detect deletions or duplications of greater than 10 Mb

10 Aneuploidy testing New Method: Microarray Whole genome or targeted coverage May detect deletions and duplications of a few kb May detect areas of homozygosity

11 Gene testing Whole Exome and Whole Genome testing and single gene testing

12 Gene testing

13 Gene testing Whole Exome testing and Whole Genome testing in prenatal Results may take a long time Not enough phenotype to aid in diagnosis Gene panel testing increasingly utilized in prenatal based on findings

14 Gene testing Skeletal Dysplasia Panel ACAN, ACP5, AGPS, ALPL, ANKH, ANO5, ARHGAP31, ARSE, ATP6V0A2, B3GALT6, B3GAT3, B4GALT7, BMP1, BMP2, BMPR1B, CA2, CANT1, CASR, CC2D2A, CDH3, CDKN1C, CEP290, CHST14, CHST3, CHSY1, CLCN5, CLCN7, COL10A1, COL11A1, COL11A2, COL1A1, COL1A2, COL2A1, COL9A1, COL9A2, COL9A3, COMP, CRTAP, CTSK, CUL7, DDR2, DHCR24, DLL3, DLX3, DMP1, DYM, DYNC2H1, EBP, EIF2AK3, ENPP1, ESCO2, EVC, EVC2, EXT1, EXT2, FAM20C, FBLN1, FBN1, FBXW4, FERMT3, FGF10, FGF23, FGFR1, FGFR2, FGFR3, FKBP10, FLNA, FLNB, FMN1, GALNT3, GDF5, GLI3, GNAS, GNPAT, GORAB, GPC6, GREM1, HDAC4, HES7, HOXD13, HPGD, HSPG2, ICK, IDH1, IDH2, IFITM5, IFT122, IFT140, IFT80, IHH, KIF22, KIF7, LEMD3, LFNG, LIFR, LMBR1, LMNA, LRP4, LRP5, MAFB, MATN3, MESP2, MGP, MKS1, MMP13, MMP2, MMP9, MYCN, NEK1, NIPBL, NKX3-2, NOG, NOTCH2, NPR2, OBSL1, OSTM1, P3H1, PAPSS2, PCNT, PDE4D, PEX7, PHEX, PIGV, PITX1, PLOD2, PPIB, PPP3CA, PRKAR1A, PTH1R, PTHLH, PTPN11, PYCR1, RECQL4, ROR2, RPGRIP1L, RUNX2, SALL1, SALL4, SERPINF1, SERPINH1, SH3PXD2B, SHH, SHOX, SLC26A2, SLC34A3, SLC35D1, SLC39A13, SMAD4, SMARCAL1, SOST, SOX9, SP7, SULF1, TBCE, TBX15, TBX3, TBX5, TBX6, TBXAS1, TCIRG1, TGFB1, THPO, TMEM216, TMEM67, TNFRSF11A, TNFRSF11B, TNFSF11, TP63, TREM2, TRIP11, TRPS1, TRPV4, TYROBP, WDR35, WISP3, WNT3, WNT5A, WNT7A, ZMPSTE24 ( 179 genes ) Turn Around Time Cell culture 2-3 weeks Analysis 3-5 weeks

15 Carrier screening Traditional: Based on family history or ethnicity Cystic Fibrosis for Caucasians and Ashkenazi Jewish Sickle cell in Africans and African Americans Thalassemia in Italians

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17 Carrier Screening Updated: Expanded carrier panels Are Pan Ethnic Screen for upwards of 250+ disorders May use common mutations or sequencing

18 Non-invasive Testing Traditional: Testing for common aneuploidies only

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20 Non-invasive testing Updated: Testing for all chromosomes Updated: Testing for single gene disorders

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22 How does this affect our work? We may have answers before the baby reaches the NICU We may not have answers, but we have already eliminated some possibilities We may have testing that is still in process, and should not be duplicated We need to be in communication

23 You ve always had the power my dear, you just had to learn it for yourself. -Glinda

24 Question 1 Carrier screening for conditions like Cystic Fibrosis should be A. Performed only on individuals with a family history of Cystic Fibrosis B. Performed on populations with a high carrier rate like Caucasians C. Offered to all regardless of ethnicity

25 Question 2 True or False Diagnostic testing for chromosome abnormalities may be performed through maternal blood after 9 weeks in the pregnancy.

26 Question 3 True or False Since you are sequencing the entire genome with whole genome sequencing, you will always be able to determine if the cause of a condition is genetic.