abmgg accreditation committee meeting agenda july 29, 2018 ... ac agenda 7-2018.pdf · 4. update on...

ABMGG Accreditation Committee Meeting Agenda

July 29, 2018

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

1. Review/Approve May conference call minutes. (attached)

2. Final list of approved programs: (attached)

3. Request from VCU (attached)

4. Update on transition to ACGMEa. Abbreviated slide set about transition (attached)b. DRAFT ACGME Specialty program requirements (public review ending

7.28.2018)c. Timeline for first programs to apply to ACGME

5. Annual Reports Progressa. Due August 31, 2018b. Committee Review Process

ABMGG Accreditation Committee 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

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© 2018 ACGME

• Drafts of CBG andLGG programrequirementsavailable for 45-daypublic review andcomment

June 2018

• ProgramRequirementsanticipated to beapproved byACGME Board ofDirectors

September 2018 • CBG and LGG

applications will beavailable

• Webinar to walkthrough theapplication process

October 2018

• First ReviewCommittee Meetingto review CBG andLGG applications

January 2019 • Presentation at

ACMG to walkthrough applicationprocess anddocumentation

April 2019

• Presentation atAPHMG to walkthrough applicationprocess anddocumentation

May 2019

Transition Key DatesBack to top

© 2018 ACGME

Common Application

• Completed online inAccreditation DataSystem (ADS)

• Questions related togeneral structure ofprogram andlearningenvironment

• Includes faculty CVinformation

Specialty-specific Application

• Word documentfilled out anduploaded into ADS

• Questions related tothe specialtyeducational contactof the program

Document Uploads

• Documentation andpolicies uploadedinto ADS

• Includes (but is notlimited to): programpolicies andprocedures,evaluation forms,and block diagram

Application Basics

© 2018 ACGME

Draft Program Requirements for LGG and CBG

fellowship training:

http://www.acgme.org/What-We-Do/Accreditation/Review-and-

Comment

LAST DAY TO SUBMIT COMMENTS: July 28,2018

ACGME Draft Program Requirements Posted:

http://www.acgme.org/What-We-Do/Accreditation/Review-and-Comment

© 2018 ACGME

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

Frequently Asked Questions

© 2018 ACGME

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.


© 2018 ACGME

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.


© 2018 ACGME

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.


© 2018 ACGME

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.


© 2018 ACGME

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

ACGME Fees

1 Updated: July 9, 2018

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

State Institution

Fellowships Offered

Contact Information Clinical Biochemical

Genetics

Laboratory Genetics

and Genomics

Alabama University of Alabama at Birmingham Y Y (3 year)

Department of Genetics Kaul 230, 720 20th Street South Birmingham, AL 35294

Program Director: Dr. Jon Sharer Contact: Demetria Blakely-Stoudermire Tel: (205) 934-9411

California

Stanford University School of Medicine Y Y

Stanford Medical Genetics Training Program 300 Pasteur Dr. H-315 Stanford, CA 94305-5208

Program Director: Dr. Tina Cowan Contact: Stephanie Martinez Tel: (650) 498-4937

University of California, Los Angeles Y Y (3 year)

UCLA Intercampus Medical Genetics Training Program Pathology and Laboratory Medicine 10833 Le Conte Ave Los Angeles, CA 90095

Program Director: Dr. Josh Deignan Contact: Andrew Aldapa Tel: (310) 206-1770

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mailto:[email protected]




University of California, San Diego Y Y

UCSD School of Medicine Department of Pediatrics, Division of Genetics 9500 Gilman Drive #0830 La Jolla, CA 92093-0830

Program Director: Dr. Marie Dell’Aquila Contact: Kate O’Shaunghnessy Tel: (619) 543-5237

University of California, San Francisco Y Y

UCSF School of Medicine Division of Pediatrics 550 16th Street 4th Fl. Box 0110 San Francisco, CA 94143

Program Director: Dr. Jessica Van Ziffle Contact: Gianna Guerrero and Miguel Marquez-Sanchez Tel: (415) 502-3243

Colorado University of Colorado Denver Y Y

School of Medicine Children's Hospital Colorado, Mail Stop 8400 13121 East 17th Avenue Aurora, CO 80045

Program Director: Dr. Anne Tsai Contact: Aris Molock Tel: (303) 724-2354

Connecticut Yale University Y

Department of Genetics 333 Cedar Street P.O. Box 208005 New Haven, CT 06520-8005

Program Director: Dr. Allen Bale Contatct: Kristianne Cretella Tel: (203) 785-2649

Florida University of Miami School of Medicine & Jackson Memorial Hospital Y

Biomedical Research Building 1501 N.W. 10 Avenue, Room 613 Miami, FL 33136-1012

Program Director: Dr. Deborah Barbouth Contact: Chwanda Frazier Tel: (305) 243-6056








Georgia Emory University Y

Department of Human Genetics Division of Medical Genetics 2165 North Decatur Road Decatur, GA 30033

Program Director & Contact: Arunkanth Ankala Tel: (470) 378-2183

Illinois University of Chicago Y

Department of Human Genetics 5841 S. Maryland Avenue, M/C 0077 Chicago, IL 60637

Program Director: Dr. Darrel Waggoner Contact: Dr. Carrie Fitzpatrick Tel: (773) 702-2922

Indiana Indiana University Y (2.5 Years)

School of Medicine Department of Medical and Molecular Genetics 975 W. Walnut Street, IB-244 Indianapolis, IN 46202-5251

Program Director: Dr. Gail Vance Contact: Michelle O’Connor Tel: (317) 274-2238

Louisiana Tulane University Y

Health Sciences Center Human Genetics Program 1430 Tulane Avenue, Box SL-31 New Orleans, LA 70112

Program Director: Dr. Hans Andersson Contact: Jovan Dupree Tel: (504) 988-5229




mailto:%[email protected]


Maryland

Johns Hopkins University Y

McKusick-Nathans Institute of Genetic Medicine 733 N. Broadway Broadway Research Building, 559 Baltimore, MD 21287-3914

Program Director: Dr. Garry Cutting Contact: Laura Gibson Tel: (443) 287-7126

National Human Genome Research Institute (NHGRI) / National Institutes of Health (NIH) Y Y

Metropolitan Washington, D.C. Medical Genetics Training Program 35 Convent Drive, MSC 3717 Building 35, Room 1B-203 Bethesda, MD 20892-3717

Program Director: Dr. Maximilian Muenke Contact: Suzanne Hart Tel: (301) 402-8167 or (301) 594-7487

Massachusetts Harvard Medical School Y Y

Boston Children’s Hospital 3 Blackfan Road, 15th Floor 15064 Boston, MA 02115

Program Director: Joan Stoler Contact: Susanna Chan Tel: (617) 919-3541

Michigan Henry Ford Hospital Y

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

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






University of Michigan Y

Division of Pediatric Genetics 1500 East Medical Center Drive D5240 MPB/Box 5718 Ann Arbor, MI 48109-5718

Program Director & Contact: Dr. Jeffrey Innis Tel: (734) 764-0579

Minnesota

Mayo Clinic Y Y (3 year)

Department of Medical Genetics 200 First Street, S.W. Rochester, MN 55905

Program Director: Dr. Dusica Babovic-Vuksanovi Contact: Dawn Doherty Tel: (507) 284-2404

University of Minnesota Medical School Y

Department of Laboratory Medicine and Pathology 420 Delaware Street, SE Mayo Mail Code 609 Minneapolis, MN 55455

Program Director: Dr. Betsy Hirsch Contact: Maggie McGough Tel: (612) 624-8133

Missouri University of Missouri Kansas City Y (3 Year)

Children's Mercy Hospital Clinical Genetics Laboratories 2420 Pershing, Suite 100 Kansas City, MO 64108

Program Director: Dr. Linda Cooley Contact: Nancy Draffen Brown Tel: (816) 234-1693






Washington University in St. Louis School of Medicine Y

Division of Laboratory and Genomic Medicine Department of Pathology and Immunology 660 South Euclid Avenue, CB 8118 St. Louis, MO 63110

Program Director: Dr. Julie Neidich Contact: Sue Pagano Tel: (314) 747-0687

Nebraska University of Nebraska Medical Center

Y

Munroe Meyer Institute Human Genetics Laboratory 985440 Nebraska Medical Center Omaha, NE 68198-5440

Program Director: Dr. Bhavana Dave Contact: Michelle Hess Tel: (402) 559-6962

New Jersey Rutgers Medical School Y

Division of Clinical Genetics 185 South Orange Avenue, MSB F-667 Newark, NJ 07103

Program Director: Dr. Franklin Desposito Contact: Starlene Fernandez Tel: (973) 972-0673

New York

Albert Einstein College of Medicine of Yeshiva University & Montefiore Medical Center Y

Montefiore Medical Center, Department of Pathology 111 East 210th Street, Room 310 Bronx, NY 10467

Program Director: Rizwan Naeem Contact: Zudith Lopez Tel: (718) 920-6198

Columbia University Medical Center Y

P&S Building, 17-401 630 W. 168th Street New York, NY 10032

Program Director & Contact: Dr. Vimla Aggarwal Contact: Casey Schadie Tel: (212) 342-0073







Icahn School of Medicine at Mount Sinai Y Y (3 Year)

Department of Genetics and Genomics Services One Gustave L. Levy Place, Box 1497 New York, NY 10029

Program Director: Dr. Stuart Scott Contacts: Yvette Dingwall & Dumond Austin Tel: (212) 241-3688

North Carolina

Duke University School of Medicine Y Y (3 Year)

Division of Medical Genetics, Department of Pediatrics DUMC, Box 103857 Durham, North Carolina 27710

Program Director & Contact: Dr. Marie McDonald Tel: (919) 681-1982

University of North Carolina at Chapel Hill Y (3 Year)

Department of Pathology and Laboratory Medicine CB#7525 Brinkhous-Bullitt Building Chapel Hill, NC 27599-7525

Program Director: Dr. Rosann Farber Contacts: Janice Badstein Tel: (984) 974-1790

Ohio

Cincinnati Children’s Hospital Medical Center Y Y (3 Year)

Division of Medical Genetics 3333 Burnet Avenue, MLC 4006 Cincinnati, OH 45229-3039

Program Director: Dr. Nancy Leslie Contact: Terri Wallace Tel: (513) 636-2438

The Ohio State University & Nationwide Children’s Hospital Y (3 Year)

Nationwide Children’s Hospital 700 Children’s Drive Columbus, OH 43205

Program Director: Dr. Ruthann Pfau Contact: Vanessa Ladd Tel: (614) 722-5318








University Hospitals Case Medical Center / Case Western Reserve Y Y

11100 Euclid Avenue Suite 1500 LKS Cleveland, OH 44106

Program Director: Dr. Anna Mitchell Contact: Cynthia Medves Tel: (216) 983-1156

Oklahoma University of Oklahoma Health Sciences Center Y Y

Section of Genetics 1200 Children’s Avenue, Suite 12100 Oklahoma City, OK 73104

Program Director: Dr. Shibo Li Contact: Shona Whitehead Tel: (405) 271-8685

Oregon Oregon Health & Science University Y

Molecular & Medical Genetics 3181 S.W. Sam Jackson Park Road Room RJH Hall 4502, Mail Code L103 Portland, OR 97239-3098

Program Director: Dr. Stephen Moore Contact: Stephine Beaver Tel: (503) 494-7703

Pennsylvania

Children’s Hospital of Philadelphia (CHOP) & University of Pennsylvania School of Medicine Y Y (3 Year)

3615 Civic Center Boulevard Room 716 Abramson Res. Center (ARC) Philadelphia, Pennsylvania 19104

Program Director: Dr. Nancy Spinner Contact: Gina Riggins Tel: (215) 590-2930

University of Pittsburgh School of Medicine Y Y

Magee-Women's Hospital of UPMC Department of Obstetrics, Gynecology, and Reproductive Sciences 300 Halket Street Pittsburgh, PA 15213-3180

Program Director: Dr. Daniel Bellissimo Contact: Marjorie Seskey Tel: (412) 641-7531



mailto:%[email protected]




South Carolina Greenwood Genetic Center Y Y (3 Year)

106 Gregor Mendel Circle Greenwood, SC 29646

Program Director: Dr. Laura Pollard Contact: Dr. Leta Tribble Tel: (864) 941-8100

Tennessee Vanderbilt University Medical Center

Y

Department of Pathology, Microbiology and Immunology 1301 Medical Center Drive 4605 TVC Nashville, TN 37232

Program Director: Dr. Cindy Vnencak-Jones Contact: Tapherine DeVany Tel: (615) 343-4882

Texas

Baylor College of Medicine Y Y

Texas Children’s Hospital 6701 Fannin Street, Suite 1560.10 Houston, TX 77030

Program Director: Dr. V. Reid Sutton Contact: Kara Bartel Tel: (832) 822-4292

University of Texas Southwestern Medical Center at Dallas Y

Department of Pathology 5323 Harry Hines Boulevard Dallas, TX 75390-9072

Program Director: Dr. Prasad Koduru Contact: Adrienne Rickett Tel: (214) 648-2579

Utah University of Utah School of Medicine Y Y (3 Year)

Department of Pediatrics Division of Medical Genetics 295 Chipeta Way Salt Lake City, UT 84108

Program Director: Dr. David Viskochil Contact: Feliz Martinez Tel: (801) 585-6600







Virginia Virginia Commonwealth University School of Medicine Y

Department of Human & Molecular Genetics Sanger Hall, Room 11-005, PO Box 980033 Richmond, VA 23298

Program Director: Dr. Colleen Jackson-Cook Contact: Jennifer DeWitt Tel: (804) 628-2992

Washington University of Washington School of Medicine Y Y

University of Washington School of Medicine Division of Medical Genetics Box 357720 Seattle, WA 98195-7720

Program Director: Dr. Michael Dorschner Contact: Sara Carlson Tel: (206)685-5488

Wisconsin University of Wisconsin-Madison Y Y

School of Medicine and Public Health Wisconsin State Laboratory of Hygiene Clinical Genetics Center 465 Henry Mall, 4th Floor Madison, WI 53706

Program Director: Dr. Jennifer Laffin Contact: April Meiller Tel: (608) 262-9674




An Equal Opportunity/Affirmative Action University

Miriam G. Blitzer, PhD, FACMG Chief Executive Officer American Board of Medical Genetics and Genomics 6120 Executive Blvd., Suite 525 Rockville, MD 20852 Ph: 301.634.7315

July 21, 2018

Dear Dr. Blitzer,

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 potential plan for interim actions to avoid compromising the training experience of our current LGG trainee (pending ABMGG approval). The faculty for our primary training site are: Andrea Ferreira-Gonzalez (past president of the Association of Molecular Pathology); Michael Idowu (certified in Molecular Genetic Pathology), Christopher Vlangos (certified in Clinical Molecular Genetics and Genomics), David Wilkinson (Pathologist) and Colleen Jackson-Cook (certified in Clinical Cytogenetics). At the end of December 2017, Dr. Christopher Vlangos elected to leave his position at Virginia Commonwealth University. Upon his departure we quickly initiated a recruitment to fill his position with a person who is ABMGG board-certified (first choice) or board eligible in the area of Clinical Molecular Genomics (with possible dual-boarding in Clinical 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 anew LGG candidate (a position was available for July 2018, but we did not fill thisposition). We will not initiate recruitment until we have a board certified faculty memberat the primary training site.

• Chen Yang (current fellow) will complete his focused training in the area ofcytgogenetics (under the supervision of C. Jackson-Cook).

Department of Pathology Division of Molecular Diagnostics

P.O. Box 980248 Richmond, Virginia 23298-0248

Phone: 804-828-9564 Fax: 804-827-4738

Andrea Ferreira-Gonzalez, PhD Chairman

Molecular Diagnostics Laboratory P.O. Box 980248 Richmond, VA 23298-0248 Andrea Ferreira-Gonzalez, PhD Director

Cytogenetics P.O. Box 980662 Richmond, VA 23298-0662 Colleen Jackson-Cook, PhD, FACMG Director

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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]

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”


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: ______________

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

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

abmgg accreditation committee meeting agenda july 29, 2018 ... ac agenda 7-2018.pdf · 4. update on...

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