ABMGG Accreditation Committee Meeting Agenda July 29, 2018 Bill Wilson (Chair), Azra Ligon, Elaine Spector, Joan Stoler, Mimi B

ABMGG Accreditation Committee Meeting Agenda July 29, 2018

Bill Wilson (Chair), Azra Ligon, Elaine Spector, Joan Stoler, Mimi Blitzer, Molly Yanchulis (Staff)

Review/Approve May conference call minutes. (attached)

1. Final list of approved programs: (attached)

3. UpdateRequest o fromn tra nsitionVCU (attached) to ACGME Abbreviated slide set about transition (attached) 4. DRAFT ACGME Specialty program requirements (public review ending a. 7.28.2018) b. Timeline for first programs to apply to ACGME

Annualc. Reports Progress Due August 31, 2018 5. Committee Review Process a. b. ABMGG Accreditation Committee Back to top Meeting Minutes Friday, May 25, 2018 3:00-4:00 PM ET Teleconference line:1-800-768-2983, Code: 6347315

Bill Wilson (Chair), Azra Ligon, Elaine Spector, Joan Stoler, Mimi Blitzer, Molly Yanchulis (Staff)

1) Welcome 2) Continuing Accreditation Programs a. Stanford University (Reviewers: Azra, Bill) Discussion: Review of submitted response to concerns raised by AC. Action: Review integrated block diagram within 4 weeks Motion: Program approved for 2 years b. Tulane University (Reviewers: Elaine, Joan) Discussion: Review of application Action: Send letter requesting: more details about facilities provided for fellows, more information on rotation at CHOP, list of courses and conferences, list of supporting faculty, and examples of feedback and evaluation forms. Motion: Program approved through December 2020, pending additional information. 3) Programs being considered for LGG Accreditation - Modified Applications a. University of Nebraska Medical Center (Reviewers: Elaine, Bill) Discussion: Review of modified application Action: Send letter requesting: updated block diagram, signed Laboratory Clinic Training Agreement form, clarification on trainee experience during rotations, list of courses and seminars, list of supporting faculty, examples of feedback and evaluation forms, and program director not being current in MOC. Motion: Program approved through December 2020, pending additional information 4) ACGME transition plan update Discussion: All new programs will go through ACGME. Program requirements will be posted for open comment in June/July and sent to all PDs and TDs. Final approval of requirements will take place in September, with application to follow. Dr. Blitzer will send fee reduction request letter for transition process. 5) New Business Annual Reports: We are finalizing letters for annual reports due August 31, 2018. Summer retreat: Will probably be asking members to sit in on other committee meetings Back to top Transition Key Dates

September January May 2019 • Drafts of CBG and 2018 • CBG and LGG 2019 • Presentation at LGG program applications will be ACMG to walk requirements • Program available • First Review through application • Presentation at available for 45-day Requirements • Webinar to walk Committee Meeting process and APHMG to walk public review and anticipated to be through the to review CBG and documentation through application comment approved by application process LGG applications process and ACGME Board of documentation Directors October June 2018 April 2019 2018

Common Specialty-specific Document Uploads Application Application • Completed online in • Word document • Documentation and Accreditation Data filled out and policies uploaded System (ADS) uploaded into ADS into ADS

• Questions related to • Questions related to • Includes (but is not general structure of the specialty limited to): program program and educational contact policies and learning of the program procedures, environment evaluation forms, and block diagram • Includes faculty CV information

LAST DAY TO SUBMIT COMMENTS: July 28,2018

Q: Will my application need a site visit?

A: As of August 31, 2018:

• If your program is in good standing with the ABMGG, it will not need a site visit

• If your program is on probation with the ABMGG, or is not accredited by the ABMGG, it will need a site visit

Q: Does it matter if there are both CBG and LGG programs at my institution versus just one?

A: No, programs can apply for accreditation in CBG, LGG, or both. As they are two separate programs, they will require two separate applications.

Q: How are the leadership and oversight structure different?

A: CBG and LGG are two distinct disciplines, so they will require a designated program director for each. This is different than the ABMGG model where one program director has oversight over both programs.

Q: How were the program requirements developed?

A: The existing ABMGG requirements were converted to the ACGME format, and then refined by task forces specific to each specialty, which included experts in the fields of CBG and LGG.

Q: What if I’m an LGG PD and am only certified in clinical cytogenetics and genomics or molecular genetics and genomics?

A: If an LGG program director is only certified in CGG or MGG, the program will need an assistant/associate program director certified in the complementary specialty, or certified in LGG.

Major concern raised at Program Directors’ SIG ABMGG Fees $3000/$4000 ABMGG: letter to ACGME President/CEO requesting consideration during transition; APHMG sent supporting letter 6/26: ACGME agreed to

• 50% reduction in application fee per program

• 50% reduction in annual fee for first year per program

© 2018 ACGME Back to top American Board of Medical Genetics and Genomics Accredited Clinical Laboratory Training Programs (By State) Total Programs: 43 Clinical Biochemical Genetics: 22 Laboratory Genetics and Genomics: 42

Fellowships Offered Laboratory Clinical State Institution Genetics Contact Information Biochemical and Genetics Genomics Department of Genetics Kaul 230, 720 20th Street South Birmingham, AL 35294 Alabama University of Alabama at Birmingham Y Y (3 year) Program Director: Dr. Jon Sharer Contact: Demetria Blakely-Stoudermire Tel: (205) 934-9411

Stanford Medical Genetics Training Program 300 Pasteur Dr. H-315 Stanford, CA 94305-5208 Stanford University School of Medicine Y Y Program Director: Dr. Tina Cowan Contact: Stephanie Martinez Tel: (650) 498-4937

California UCLA Intercampus Medical Genetics Training Program Pathology and Laboratory Medicine 10833 Le Conte Ave University of California, Los Angeles Y Y (3 year) Los Angeles, CA 90095 Program Director: Dr. Josh Deignan Contact: Andrew Aldapa Tel: (310) 206-1770

1 Updated: July 9, 2018 UCSD School of Medicine Department of Pediatrics, Division of Genetics 9500 Gilman Drive #0830 University of California, San Diego Y Y La Jolla, CA 92093-0830 Program Director: Dr. Marie Dell’Aquila Contact: Kate O’Shaunghnessy Tel: (619) 543-5237

UCSF School of Medicine Division of Pediatrics 550 16th Street 4th Fl. Box 0110 University of California, San Francisco Y Y San Francisco, CA 94143 Program Director: Dr. Jessica Van Ziffle Contact: Gianna Guerrero and Miguel Marquez-Sanchez Tel: (415) 502-3243 School of Medicine Children's Hospital Colorado, Mail Stop 8400 13121 East 17th Avenue Colorado University of Colorado Denver Y Y Aurora, CO 80045 Program Director: Dr. Anne Tsai Contact: Aris Molock Tel: (303) 724-2354 Department of Genetics 333 Cedar Street P.O. Box 208005 Connecticut Yale University Y New Haven, CT 06520-8005 Program Director: Dr. Allen Bale Contatct: Kristianne Cretella Tel: (203) 785-2649 Biomedical Research Building 1501 N.W. 10 Avenue, Room 613 University of Miami School of Medicine & Jackson Miami, FL 33136-1012 Florida Y Memorial Hospital Program Director: Dr. Deborah Barbouth Contact: Chwanda Frazier Tel: (305) 243-6056

2 Updated: July 9, 2018 Department of Human Genetics Division of Medical Genetics 2165 North Decatur Road Georgia Emory University Y Decatur, GA 30033 Program Director & Contact: Arunkanth Ankala Tel: (470) 378-2183

Department of Human Genetics 5841 S. Maryland Avenue, M/C 0077 Chicago, IL 60637 Illinois University of Chicago Y Program Director: Dr. Darrel Waggoner Contact: Dr. Carrie Fitzpatrick Tel: (773) 702-2922 School of Medicine Department of Medical and Molecular Genetics 975 W. Walnut Street, IB-244 Y (2.5 Indiana Indiana University Indianapolis, IN 46202-5251 Years) Program Director: Dr. Gail Vance Contact: Michelle O’Connor Tel: (317) 274-2238

Health Sciences Center Human Genetics Program 1430 Tulane Avenue, Box SL-31 Louisiana Tulane University Y New Orleans, LA 70112 Program Director: Dr. Hans Andersson Contact: Jovan Dupree Tel: (504) 988-5229

3 Updated: July 9, 2018 McKusick-Nathans Institute of Genetic Medicine 733 N. Broadway Broadway Research Building, 559 Johns Hopkins University Y Baltimore, MD 21287-3914 Program Director: Dr. Garry Cutting Contact: Laura Gibson Tel: (443) 287-7126 Maryland Metropolitan Washington, D.C. Medical Genetics Training Program 35 Convent Drive, MSC 3717 National Human Genome Research Institute (NHGRI) / Building 35, Room 1B-203 Y Y National Institutes of Health (NIH) Bethesda, MD 20892-3717 Program Director: Dr. Maximilian Muenke Contact: Suzanne Hart Tel: (301) 402-8167 or (301) 594-7487 Boston Children’s Hospital 3 Blackfan Road, 15th Floor 15064 Boston, MA 02115 Massachusetts Harvard Medical School Y Y Program Director: Joan Stoler Contact: Susanna Chan Tel: (617) 919-3541

Division of Women’s Health Services New Center One 3031 West Grand Boulevard, Suite 800 Michigan Henry Ford Hospital Y Detroit, MI 48202

Program Director: Dr. Susan Michalowski Contact: Martha Wiseheart Tel: (313) 732-7436

4 Updated: July 9, 2018 Division of Pediatric Genetics 1500 East Medical Center Drive D5240 MPB/Box 5718 University of Michigan Y Ann Arbor, MI 48109-5718 Program Director & Contact: Dr. Jeffrey Innis Tel: (734) 764-0579

Department of Medical Genetics 200 First Street, S.W. Rochester, MN 55905 Mayo Clinic Y Y (3 year) Program Director: Dr. Dusica Babovic-Vuksanovi Contact: Dawn Doherty Tel: (507) 284-2404 Minnesota Department of Laboratory Medicine and Pathology 420 Delaware Street, SE Mayo Mail Code 609 University of Minnesota Medical School Y Minneapolis, MN 55455 Program Director: Dr. Betsy Hirsch Contact: Maggie McGough Tel: (612) 624-8133

Children's Mercy Hospital Clinical Genetics Laboratories 2420 Pershing, Suite 100 Missouri University of Missouri Kansas City Y (3 Year) Kansas City, MO 64108 Program Director: Dr. Linda Cooley Contact: Nancy Draffen Brown Tel: (816) 234-1693

5 Updated: July 9, 2018 Division of Laboratory and Genomic Medicine Department of Pathology and Immunology 660 South Euclid Avenue, CB 8118 Washington University in St. Louis Y St. Louis, MO 63110 School of Medicine Program Director: Dr. Julie Neidich Contact: Sue Pagano Tel: (314) 747-0687

Munroe Meyer Institute Human Genetics Laboratory 985440 Nebraska Medical Center Omaha, NE 68198-5440 Nebraska University of Nebraska Medical Center Y Program Director: Dr. Bhavana Dave Contact: Michelle Hess Tel: (402) 559-6962 Division of Clinical Genetics 185 South Orange Avenue, MSB F-667 Newark, NJ 07103 New Jersey Rutgers Medical School Y Program Director: Dr. Franklin Desposito Contact: Starlene Fernandez Tel: (973) 972-0673 Montefiore Medical Center, Department of Pathology 111 East 210th Street, Room 310 Albert Einstein College of Medicine of Yeshiva Y Bronx, NY 10467 University & Montefiore Medical Center Program Director: Rizwan Naeem Contact: Zudith Lopez New York Tel: (718) 920-6198 P&S Building, 17-401 630 W. 168th Street New York, NY 10032 Columbia University Medical Center Y Program Director & Contact: Dr. Vimla Aggarwal Contact: Casey Schadie Tel: (212) 342-0073

6 Updated: July 9, 2018 Department of Genetics and Genomics Services One Gustave L. Levy Place, Box 1497 New York, NY 10029 Icahn School of Medicine at Mount Sinai Y Y (3 Year) Program Director: Dr. Stuart Scott Contacts: Yvette Dingwall & Dumond Austin Tel: (212) 241-3688 Division of Medical Genetics, Department of Pediatrics DUMC, Box 103857 Duke University School of Medicine Y Y (3 Year) Durham, North Carolina 27710 Program Director & Contact: Dr. Marie McDonald Tel: (919) 681-1982 North Carolina Department of Pathology and Laboratory Medicine CB#7525 Brinkhous-Bullitt Building Chapel Hill, NC 27599-7525 University of North Carolina at Chapel Hill Y (3 Year) Program Director: Dr. Rosann Farber Contacts: Janice Badstein Tel: (984) 974-1790

Division of Medical Genetics 3333 Burnet Avenue, MLC 4006 Cincinnati, OH 45229-3039 Cincinnati Children’s Hospital Medical Center Y Y (3 Year) Program Director: Dr. Nancy Leslie Contact: Terri Wallace Tel: (513) 636-2438 Ohio Nationwide Children’s Hospital 700 Children’s Drive The Ohio State University & Nationwide Children’s Columbus, OH 43205 Y (3 Year) Hospital Program Director: Dr. Ruthann Pfau Contact: Vanessa Ladd Tel: (614) 722-5318

7 Updated: July 9, 2018 11100 Euclid Avenue Suite 1500 LKS University Hospitals Case Medical Center / Cleveland, OH 44106 Y Y Case Western Reserve Program Director: Dr. Anna Mitchell Contact: Cynthia Medves Tel: (216) 983-1156

Section of Genetics 1200 Children’s Avenue, Suite 12100 University of Oklahoma Health Oklahoma City, OK 73104 Oklahoma Y Y Sciences Center Program Director: Dr. Shibo Li Contact: Shona Whitehead Tel: (405) 271-8685

Molecular & Medical Genetics 3181 S.W. Sam Jackson Park Road Room RJH Hall 4502, Mail Code L103 Oregon Oregon Health & Science University Y Portland, OR 97239-3098 Program Director: Dr. Stephen Moore Contact: Stephine Beaver Tel: (503) 494-7703

3615 Civic Center Boulevard Room 716 Abramson Res. Center (ARC) Children’s Hospital of Philadelphia (CHOP) & University Philadelphia, Pennsylvania 19104 Y Y (3 Year) of Pennsylvania School of Medicine Program Director: Dr. Nancy Spinner Contact: Gina Riggins Tel: (215) 590-2930

Pennsylvania Magee-Women's Hospital of UPMC Department of Obstetrics, Gynecology, and Reproductive Sciences 300 Halket Street University of Pittsburgh School of Medicine Y Y Pittsburgh, PA 15213-3180 Program Director: Dr. Daniel Bellissimo Contact: Marjorie Seskey Tel: (412) 641-7531 8 Updated: July 9, 2018 106 Gregor Mendel Circle Greenwood, SC 29646 South Carolina Greenwood Genetic Center Y Y (3 Year) Program Director: Dr. Laura Pollard Contact: Dr. Leta Tribble Tel: (864) 941-8100 Department of Pathology, Microbiology and Immunology 1301 Medical Center Drive 4605 TVC Tennessee Vanderbilt University Medical Center Y Nashville, TN 37232

Program Director: Dr. Cindy Vnencak-Jones Contact: Tapherine DeVany Tel: (615) 343-4882 Texas Children’s Hospital 6701 Fannin Street, Suite 1560.10 Houston, TX 77030 Baylor College of Medicine Y Y Program Director: Dr. V. Reid Sutton Contact: Kara Bartel Tel: (832) 822-4292 Texas Department of Pathology 5323 Harry Hines Boulevard University of Texas Southwestern Medical Center at Dallas, TX 75390-9072 Y Dallas Program Director: Dr. Prasad Koduru Contact: Adrienne Rickett Tel: (214) 648-2579

Department of Pediatrics Division of Medical Genetics 295 Chipeta Way Utah University of Utah School of Medicine Y Y (3 Year) Salt Lake City, UT 84108 Program Director: Dr. David Viskochil Contact: Feliz Martinez Tel: (801) 585-6600

9 Updated: July 9, 2018 Department of Human & Molecular Genetics Sanger Hall, Room 11-005, PO Box 980033 Virginia Commonwealth University Richmond, VA 23298 Virginia Y School of Medicine Program Director: Dr. Colleen Jackson-Cook Contact: Jennifer DeWitt Tel: (804) 628-2992 University of Washington School of Medicine Division of Medical Genetics Box 357720 Washington University of Washington School of Medicine Y Y Seattle, WA 98195-7720 Program Director: Dr. Michael Dorschner Contact: Sara Carlson Tel: (206)685-5488 School of Medicine and Public Health Wisconsin State Laboratory of Hygiene Clinical Genetics Center 465 Henry Mall, 4th Floor Wisconsin University of Wisconsin-Madison Y Y Madison, WI 53706 Program Director: Dr. Jennifer Laffin Contact: April Meiller Tel: (608) 262-9674

10 Updated: July 9, 2018 Back to top

Miriam G. Blitzer, PhD, FACMG Department of Pathology Chief Executive Officer Division of Molecular Diagnostics American Board of Medical Genetics and Genomics P.O. Box 980248 6120 Executive Blvd., Suite 525 Richmond, Virginia 23298-0248 Rockville, MD 20852 Ph: 301.634.7315 Phone: 804-828-9564 Fax: 804-827-4738 July 21, 2018 Andrea Ferreira-Gonzalez, PhD Dear Dr. Blitzer, Chairman I am contacting you to: (1) inform you of a change in the faculty for our LGG training program in the Department of Human Genetics at Virginia Commonwealth University; and (2) offer a Molecular Diagnostics Laboratory potential plan for interim actions to avoid compromising the training experience of our current P.O. Box 980248 Richmond, VA 23298-0248 LGG trainee (pending ABMGG approval). The faculty for our primary training site are: Andrea Andrea Ferreira-Gonzalez, PhD Ferreira-Gonzalez (past president of the Association of Molecular Pathology); Michael Idowu Director (certified in Molecular Genetic Pathology), Christopher Vlangos (certified in Clinical Molecular Genetics and Genomics), David Wilkinson (Pathologist) and Colleen Jackson-Cook (certified in Cytogenetics Clinical Cytogenetics). At the end of December 2017, Dr. Christopher Vlangos elected to leave P.O. Box 980662 his position at Virginia Commonwealth University. Upon his departure we quickly initiated a Richmond, VA 23298-0662 recruitment to fill his position with a person who is ABMGG board-certified (first choice) or Colleen Jackson-Cook, PhD, FACMG board eligible in the area of Clinical Molecular Genomics (with possible dual-boarding in Clinical Director

Cytogenetics and Genomics). This search resulted in our selection of Scott Turner, PhD, as our new associate director of Molecular Cytogenetics. Scott, who is finishing his fellowship training (under the direction of Cindy Vnencak-Jones at Vanderbilt), will join our group in August of 2018 and will take his certification exam in August of 2019. We are continuing with recruitment for 2 additional faculty positions, which we hope to fill with candidates who are dual-boarded in Molecular and Cytogenetics. We currently have one LGG trainee (Chen Yang), who started our program in July 2017, with a strong background in molecular diagnostics (he worked in a molecular diagnostics testing lab for 2 years prior to starting his LGG training). Chen started his training in the LGG program under the supervision of Dr. Vlangos and made very good progress toward gaining experience with cases to meet his logbook requirements (he only needs 14 more abnormal cases to meet logbook requirements regarding the molecular component of his training). Upon Dr. Vlangos’ departure, Chen moved forward with his LGG training in the Cytogenetics lab under my direction (C. Jackson-Cook). At Chen’s annual review we agreed that the best strategy for his continued training would be for him to identify cytogenetics as his area of focus (6 months) to enable him to strengthen his skill in this discipline. However, he does require additional training in molecular testing to meet logbook requirements and knowledge needs. To ensure that our current trainee receives a strong learning experience, and to meet the requirements of the ABMGG training program guidelines, we propose the following plan of action: • Upon Dr. Vlangos’ departure we immediately terminated our recruitment efforts for a new LGG candidate (a position was available for July 2018, but we did not fill this position). We will not initiate recruitment until we have a board certified faculty member at the primary training site. • Chen Yang (current fellow) will complete his focused training in the area of cytgogenetics (under the supervision of C. Jackson-Cook).

An Equal Opportunity/Affirmative Action University

• Dr. Michael Idowu (MGP certified), who is the director of our MGP program, will serve as the interim director for the molecular component of the LGG program at our primary training site. It is my understanding that a candidate can acquire logbook cases under the supervision of a faculty member with MGP certification. I could not locate the number of cases that a MGP certified faculty could supervise under the LGG program, but based on my understanding that 25% of cases could be completed under the supervision of an MGP faculty with the former Clinical Molecular training program, I anticipate that he will be able to complete approximately 12% of cases for the LGG program. He currently only needs 7% of his total cases for the molecular component to meet logbook requirements.

• Eli Williams, PhD, who is a faculty member at the nearby (45 minute drive) University of Virginia will join our program faculty as the leader of an ancillary training site in Molecular Genetics and Genomics. Dr. Williams is dual-boarded in Clinical Molecular Genetics and Clinical Cytogenetics and has agreed to serve in this capacity (see attached CV and ancillary training site documents). He also has agree to provide regular feedback via email and phone conversations with Chen to ensure that he is continuing to expand his experience and knowledge in the area of Molecular Genetics and Genomics. This feedback from these conversations will be documented. In addition, a record of the in- person meetings will be documented. These ongoing discussions between Chen and Dr. Williams will focus on the weekly cases he has been involved with, any unusual cases or technical trouble shooting issues that he might have encountered, and medical genetics/molecular genetics knowledge that he has attained related to the management of these cases.

• Chen Yang (current fellow) will visit the Molecular Genetics lab at the University of Virginia (new ancillary site) for 2 weeks to gain additional experience in the field of Molecular Genetics and Genomics.

• Chen Yang (current fellow) will also visit the GeneDx lab, which has been a long- standing ancillary training site for our program. During his time there he will be trained by individuals who are ABMGG certified in Clinical Molecular Genetics.

We appreciate your review and acceptance/recommendation for modifications of this proposed plan. We highly value our role as mentors for the future generation of clinical laboratory geneticists and continually strive to ensure that they receive a high quality training experience. We will also inform you of the 2 new faculty who will be joining our program as soon as they have been identified through our ongoing recruitment. Our plan to recruit 2 additional double-boarded individuals should enable to avoid situations like this in the future.

Respectfully submitted,

Colleen Jackson-Cook, PhD, FACMG Professor and Director of Cytogenetics Program Director ABMGG LGG Training Program Phone: 804-628-2992 Fax: 804-828-4242 Email: [email protected]

An Equal Opportunity/Affirmative Action University Updated June 5, 2018 CURRICULUM VITAE

Eli Stowe Williams, PhD, FACMG

I. PERSONAL DATA Office Address: University of Virginia School of Medicine Office 434-243-4053 Department of Pathology Lab 434-924-5184 Box 800168 Fax 434-982-3829 Charlottesville, VA 22908 Email [email protected]

Home Address: 1601 Keith Valley Road Cell 970-222-8757 Charlottesville, VA 22903

II. EDUCATION 2007 Ph.D. Cell & Molecular Biology Colorado State University 1999 B.S. Diagnostic Genetic Sciences University of Connecticut

III. POST-GRADUATE EDUCATION 2010 – 2013 ABMG Clinical Fellowship (Genetics) Emory University 2007 – 2010 Research Fellowship (Drug Discovery) Moffitt Cancer Center

IV. ACADEMIC APPOINTMENTS Aug 2013 Assistant Professor Dept. of Pathology University of Virginia

V. OTHER EMPLOYMENT PERTAINING TO CURRENT PROFESSIONAL APPOINTMENTS 2017 Director Cytogenetics Lab University of Virginia 2015 Co-Scientific Director Genomics Lab University of Virginia 2013 – 2017 Associate Director Cytogenetics Lab University of Virginia

VI. CERTIFICATION AND LICENSURE A. Certification American Board of Medical Genetics in Clinical Cytogenetics Aug 2013 2013218 American Board of Medical Genetics in Clinical Molecular Genetics Aug 2013 2013219

VII. HONORS AND AWARDS 2018 Department of Pathology Faculty Teaching Awards 2012 Student Travel Award, Southeastern Regional Genetics Group 2011 Student Travel Award, Southeastern Regional Genetics Group 2008 Scholars in Training Award, Radiation Research Society 2007 Outstanding Ph.D. Candidate, Department of Radiological Health Sciences, Colorado State University 2007 Recognition with Honors, Cell & Molecular Biology Program Annual Poster Competition, Colorado State University 2006 Scholars in Training Award, Radiation Research Society 2005 Student Travel Award, Cold Spring Harbor Laboratories 2004 Young Investigators Award, American Statistical Association Updated June 5, 2018 2004 Scholars in Training Award with Excellence, Radiation Research Society

VIII. PROFESSIONAL AFFILIATIONS 2016 Member American Cytogenetics Conference 2014 Fellow American College of Medical Genetics and Genomics 2014 Diplomate American Board of Medical Genetics and Genomics

IX. RESEARCH ACTIVITIES A. Areas of Research Interest • Applications of chromosomal microarray in the molecular profiling of solid tumors • Clinical applications of next generation sequencing technology in hematological malignancies

X. TEACHING ACTIVITIES A. Direct Teaching Activities 2017 – 2018 UVA Medical Education – Foundations of Medicine • Principles of Clinical Genetics 1 hour • Single Gene Inheritance 1 hour • Variations in Single Gene Inheritance 1 hour • Cytogenetics 2 hours • Multifactorial Gene Inheritance 1 hour • Genetics Review 2 hours • Directed Clinical Letter (small groups) 3 hours 2017 – 2018 UVA Medical Education – Cells, Tissues, Mechanisms of Disease • Clinical Cytogenomics 2 hours • Personalized Medicine 2 hours • Genomics in Cancer 1.5 hours • Embryology & Clinical Genetics (problem set) 2 hours 2017 – 2018 UVA Medical Education – Hematology System • Genomics in Hematological Malignancies 1 hour 2017 – 2018 UVA Medical Education – Gastrointestinal System • Inherited GI disorders 1.5 hours 2016 – 2017 UVA Medical Education – Foundations of Medicine • Variations in Single Gene Inheritance 1 hour • Cytogenetics 2 hours • Genetics Review 2 hours • Directed Clinical Letter (small groups) 3 hours 2016 – 2017 UVA Medical Education – Cells, Tissues, Mechanisms of Disease • Personalized Medicine 2 hours • Genomics in Cancer 1.5 hours 2016 – 2017 UVA Medical Education – Hematology System • Genomics in Hematological Malignancies 1 hour 2016 – 2017 Public Health Sciences 5500 – Public Health Genomics • Clinical Applications of Genomics 1.5 hours 2015 – 2016 UVA Medical Education – Foundations of Medicine • Directed Clinical Letter (small groups) 3 hours 2015 – 2016 UVA Medical Education – Cells, Tissues, Mechanisms of Disease • Personalized Medicine 2 hours Updated June 5, 2018 • Genomics in Cancer 1.5 hours 2015 – 2016 Public Health Sciences 5705 – Public Health Genomics • Clinical Applications of Genomics 1.5 hours 2014 – 2015 UVA Medical Education – Foundations of Medicine • Directed Clinical Letter (small groups) 3 hours 2014 – 2015 UVA Medical Education – Cells, Tissues, Mechanisms of Disease • Personalized Medicine 2 hours • Genomics in Cancer 1.5 hours 2013 – 2014 LAW 7612 – Genetics and the Law • Cytogenomics: Drinking from the Firehose 1 hour B. Educational Leadership 2017 – Current Thread Leader, Genomic Medicine UVA Medical Education 2014 – Current Director, Pathology Seminar Series (CME Accredited) C. Creation of Enduring Educational Materials 2018 UVA Department of Pathology Educational Sound Bite “Introduction to Next Generation Sequencing Assays” http://www.screencast.com/users/PathologyAM/folders/Default/media/1f1a12c7-a98d-4389- be89-8a1eca4ca5bb 2016 UVA Department of Pathology Educational Sound Bite “Chromosomal Microarray, Parts 1 and 2” http://www.screencast.com/users/PathologyAM/folders/Default/media/1f1a12c7-a98d-4389- be89-8a1eca4ca5bb

XI. CLINICAL ACTIVITIES A. Clinical Directorships 2017 – Current Director of Cytogenetics 2015 – Current Co-Scientific Director of Clinical Genomics 2013 – 2017 Associate Director of Cytogenetics 2013 – 2015 Associate Director of Clinical Genomics

XII. COMMITTEES AND COUNCILS A. Department of Pathology 2016 – Current Resident Program Evaluation Committee 2016 – Current Hematopathology Fellowship Clinical Competency Committee 2015 – 2018 Resident Clinical Competency Committee 2017 Search Committee for Molecular Geneticist (successful) 2014 Search Committee for Section Chief of Clinical Pathology (successful) 2014 Search Committee for Hematopathologist (successful) B. University of Virginia Medical Center 2015 Medical Laboratories Website Improvement Committee 2014 Search Committee for Medical Laboratory Quality Officer (successful) C. National 2018 ACMG Program Committee 2018 ACC Student/Trainee Awards Committee 2015 – 2018 Molecular Diagnostics Task Force, Oncology Research Information Exchange Network (ORIEN) 2012 – 2014 ClinVar Evidence-Based Review Work Group

Updated June 5, 2018 XIII. PAPERS PUBLISHED OR IN PRESS

Wenzinger C, Williams E, Gru AA. Updates in the Pathology of Precursor Lymphoid Neoplasms in the Revised 4th Edition of the WHO Classification of Tumors of Hematopoietic and Lymphoid Tissues. Curr Hematol Malig Rep. (In press)

Cornforth MN, Anur P, Wang N, Robinson E, Ray FA, Bedford JS, Loucas BD, Williams ES, Peto M, Spellman P, Kollipara R, Kittler R, Gray JW, Bailey SM. Molecular Cytogenetics Guides Massively Parallel Sequencing of a Radiation-Induced Chromosome Translocation in Human Cells. Radiat Res. 2018 May 11. PMID: 29749794

Williams ES, Barrett MJ, Dhamija R, Toran L, Chambers C, Mahadevan MS, Golden WL. Phase determination using chromosomal microarray and fluorescence in situ hybridization in a patient with early onset Parkinson disease and two deletions in PRKN. Mol Genet Genomic Med. 2018 Mar 25. PMID: 29577677

Barrett MJ, Williams ES, Chambers C, Dhamija R. Autosomal recessive inheritance of ADCY5-related generalized dystonia and myoclonus. Neurol Genet. 2017 Sep 25;3(5):193. PMID: 28971144

Gru AA, Williams ES, Cao D. Mixed Gonadal Germ Cell Tumor Composed of a Spermatocytic Tumor-Like Component and Germinoma Arising in Gonadoblastoma in a Phenotypic Woman With a 46, XX Peripheral Karyotype: Report of the First Case. Am J Surg Pathol. 2017 Sep;41(9):1290-1297. PMID: 28614211

Rehman AF, Dhamija R, Williams ES, Barrett MJ. 22q11.2 Deletion Syndrome Presenting with Early-onset Parkinson Disease. Movement Disorders. 2015 Jul. doi: 10.1002/mds.26305. PMID: 26195290

Williams ES and Hegde M. Implementing genomic medicine in pathology. Adv Anat Pathol. 2013 Jul;20(4):238-44. PMID: 23752086.

Mason-Suares H, Kim W, Grimmett L, Williams ES, Horner VL, Kunig D, Goldlust IS, Wu BL, Shen Y, Miller DT, Martin CL, Rudd MK. Density Matters: comparison of array platforms for detection of copy- number variation and copy-neutral abnormalities. Genet Med. 2013 Sep;15(9):706-12. PMID: 23558256.

Williams ES, Uhas KA, Bunke BP, Garber KB, Martin CL. Cleft palate in a multigenerational family with a microdeletion of 20p12.3 involving BMP2. Am J Med Genet A. 2012 Oct;158A(10):2616-20. PMID: 22965927.

Riggs ER, Church DM, Hanson K, Horner VL, Kaminsky EB, Kuhn RM, Wain KE, Williams ES, Aradhya S, Kearney HM, Ledbetter DH, South ST, Thorland EC, Martin CL. Towards an evidence-based process for the clinical interpretation of copy number variation. Clin Genet. 2012 May;81(5):403-12. PMID: 22097934.

Hayman TJ, Williams ES, Jamal M, Shankavaram UT, Camphausen K, Tofilon PJ. Translation initiation factor eIF4E is a target for tumor cell radiosensitization. Cancer Res. 2012 May 1;72(9):2362-72. PMID: 22397984.

Williams ES, Cornforth MN, Goodwin EH, Bailey SM. CO-FISH, COD-FISH, ReD-FISH, SKY-FISH. Methods Mol Biol. 2011;735:113-24. PMID: 21461816.

Updated June 5, 2018 Jamal M, Rath BH, Williams ES, Camphausen K, Tofilon PJ. Microenvironmental regulation of glioblastoma radioresponse. Clin Cancer Res. 2010 Dec 15;16(24):6049-59. Epub 2010 Oct 29. Erratum in: Clin Cancer Res. 2011 Apr 1;17(7):2068. PMID: 21037023.

Bailey SM, Williams ES, Cornforth MN, Goodwin EH. Chromosome Orientation fluorescence in situ hybridization or strand-specific FISH. Methods Mol Biol. 2010;659:173-83. PubMed PMID: 20809311.

Kahali S, Sarcar B, Fang B, Williams ES, Koomen JM, Tofilon PJ, Chinnaiyan P. Activation of the unfolded protein response contributes toward the antitumor activity of vorinostat. Neoplasia. 2010 Jan;12(1):80-6. PMID: 20072656.

McCord AM, Jamal M, Williams ES, Camphausen K, Tofilon PJ. CD133+ glioblastoma stem-like cells are radiosensitive with a defective DNA damage response compared with established cell lines. Clin Cancer Res. 2009 Aug 15;15(16):5145-53. PMID: 19671863.

Williams ES, Bailey SM. Chromosome orientation fluorescence in situ hybridization (CO-FISH). Cold Spring Harb Protoc. 2009 Aug;2009(8):pdb.prot5269. PMID: 20147245.

Williams ES, Klingler R, Ponnaiya B, Hardt T, Schrock E, Lees-Miller SP, Meek K, Ullrich RL, Bailey SM. Telomere dysfunction and DNA-PKcs deficiency: characterization and consequence. Cancer Res. 2009 Mar 1;69(5):2100-7. PMID: 19244120.

Chinnaiyan P, Cerna D, Burgan WE, Beam K, Williams ES, Camphausen K, Tofilon PJ. Postradiation sensitization of the histone deacetylase inhibitor valproic acid. Clin Cancer Res. 2008 Sep 1;14(17):5410-5. PMID: 18765532.

Williams ES, Stap J, Essers J, Ponnaiya B, Luijsterburg MS, Krawczyk PM, Ullrich RL, Aten JA, Bailey SM. DNA double-strand breaks are not sufficient to initiate recruitment of TRF2. Nat Genet. 2007 Jun;39(6):696- 8; author reply 698-9. PMID: 17534357.

Kow K, Bailey SM, Williams ES, Withrow S, Lana SE. Telomerase activity in canine osteosarcoma. Vet Comp Oncol. 2006 Sep;4(3):184-7. PMID: 19754815.

Zhang Q, Williams ES, Askin KF, Peng Y, Bedford JS, Liber HL, Bailey SM. Suppression of DNA-PK by RNAi has different quantitative effects on telomere dysfunction and mutagenesis in human lymphoblasts treated with gamma rays or HZE particles. Radiat Res. 2005 Oct;164(4 Pt 2):497-504. PMID: 16187756.

Zhang Y, Lim CU, Williams ES, Zhou J, Zhang Q, Fox MH, Bailey SM, Liber HL. NBS1 knockdown by small interfering RNA increases ionizing radiation mutagenesis and telomere association in human cells. Cancer Res. 2005 Jul 1;65(13):5544-53. PMID: 15994926.

Molecular Genetics Laboratory: Laboratory Information, Clinical Case Reports, and Proficiency Testing Participation

Complete one form for each molecular genetics laboratory associated with the training program. List the clinical caseload in each category below for the last twelve-month period. Do not include research or test development data. NOTE: If the laboratory is offsite, a signed Laboratory/Clinic Training Arrangement Form must be submitted.

NAME of Laboratory:

ADDRESS/LOCATION of Laboratory: CHECK ONE:  Onsite Lab  Offsite Lab [see NOTE above] Name of Laboratory Director(s):

Period Covered [MM/DD/YYYY - MM/DD/YYYY]: Licensure: List all license numbers AND expiration dates: CLIA: ______Expiration date: ______State: ______Expiration date: ______Other: ______Expiration date: ______

Accreditation Inspection(s): Most recent onsite CAP inspection date : ______Most recent onsite CLIA inspection date:______Other inspection (please specify): ______; Most recent onsite inspection date: ______Total Number of Name of Disease Indication for Testing* Diagnostic Method(s)** Tests Performed

* Indication for Testing: diagnostic, predictive, carrier determination, carrier screening, other, unknown. ** Diagnostic Method(s): RFLP/gel, sequencing, array, allele specific platform, Real Time PCR, etc.

Molecular Genetics, continued

Total Number of Name of Disease Indication for Testing* Diagnostic Method(s)** Tests Performed

List all proficiency testing programs in which this molecular genetics laboratory participates. Add rows as needed. Do not send documentation.

PROFICIENCY TESTING Organization (e.g., CAP, Other) PT Test Name