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NHGRI Genomic Consultation Research Working Group

Event Details

On February 16, 2023, the National Human Genome Research Institute (NHGRI) held a follow-up working group consultation after the 14th Genomic Medicine meeting, Genomic Medicine XIV: Genomic Learning Healthcare Systems.

Meeting Summary (PDF)

All times are in EST.


Goal of the Working Group

Examine approaches to implement recommendations of GMXIV meeting regarding genomic medicine consultation:

  • Create a consult service or expert panel to help educate clinicians about genetic test orders, interpretation, and determining next steps.
  • Develop “learning community of practice” listserv to provide information and updates, potentially supplemented with a panel of experts.
  • Promote equity of implementation in low-resourced and underserved settings.


  • Examine infrastructure and logistical needs
  • Identify barriers and solutions to operational issues such as licensing, liability, sustainability
  • Propose key outcome measures for evaluating impact of consult service.

Roster of Working Group Members



Adam Buchanan

Geisinger Health System

Rizwan Hamid

Vanderbilt Children's Hospital

Leland Hull

Massachusetts General Hospital/Broad Institute

Muin Khoury

CDC's Office of Genomics and Precision Public Health

Mylynda Massart

University of Pittsburgh Medical Center

Howard McLeod

Intermountain Healthcare

Carolyn Menendez

Durham VA and Duke University

Dan Rader

Penn Center for Precision Medicine

Nathaniel (Nat)Robin

The University of Alabama at Birmingham Heersink School ofMedicine

Todd Skaar

Indiana University School of Medicine

Jason Vassy

Boston VA, Brigham and Women’s Hospital, and Harvard MedicalSchool

NHGRI Staff:

  • Teri Manolio
  • Renee Rider


11:00 a.m. -  Welcome / Overview of goal and objectives
Teri Manolio and Renee Rider


11:05 a.m. - Introductions (Sharing of Names and Institutions)
Moderator: Renee Rider


11:10 a.m. - Discussion: Infrastructure 
Moderator: Teri Manolio

Setting up and studying a nationwide genomic medicine (not traditional genetics) consultation service

  • Types of expertise
  • Target audience
  • User feedback
  • Equitable access
  • Licensing and liability
  • Sustainability

12:00 p.m. - Discussion: Curating advice for recurring questions (i.e., decision tree for BRCA1 variant as secondary finding, FH variant with normal cholesterol)
Moderator: Renee Rider

  • Models for curating and disseminating genomic advice (i.e., ClinGen, NCCN guidelines, CPIC, expert panels, UpToDate)
  • Models that non-geneticist clinicians can adopt
  • Limitations of existing sources (i.e., guidelines) and possible solutions

12:30 p.m. - Discussion: Evaluating Impact
Moderator: Teri Manolio

  • Outcomes important to experts providing consults
  • Outcomes important to clinicians receiving consults
  • Outcomes important to patients
  • Other outcomes and potential research questions

12:50 p.m. - Summary and Close


Examples of Consultation Services (in alphabetical order by institution)

The University of Alabama at Birmingham Heersink School of Medicine


Our Genetic Testing Service is in the design phase, and we hope to begin late 2023. This is a ROUGH outline forwhat we plan to do. The program is supported through Hospital funding, but the exact source is still being discussed. there is general consensus that this is a very needed resource.


We have had some debate is pediatrics will be included, as our Children's Hospital is a separate entity from UAB proper, and they have not agreed to provide any support. However, the faculty are all UAB faculty.


The plan is to have a phone number/pager/email that any UAB physician can use to ask for assistance in ordering genetic testing. The initial contact will be a Genetic Counseling Assistant (GCA). If the request is more complex thansimply finding the right test/lab based on insurance, etc, (eg, they obviously need help providing genetic counseling, or further genetic assessment) the call will be forwarded to a Genetic Counselor who may provide that assistance on thespot or refer the patient to a physician's general genetics or genetic counseling clinic. appointments are set aside so thesepatients will be seen in a timely manner. Physician back up is always available as well.



Boston VA


VA Research2Care Connector (planned)


  • Boston-based MD and GC with email hotline available for inquiries from patients receiving researchgenetic results (e.g. from the All of Us Research Program)
  • MD and GC will provide information about local resources available for clinical confirmation and/ormanagement
  • Reasons for contact will be catalogued



Brigham and Women’s Hospital


Genetics E-Consult Service (since 2018):


  • Referring provider asks a targeted genetics question to the consultant through Epic
  • PCP genetics champion drafts initial e-consult response, supervised by medical geneticist or genetic counselor
  • Division of Genetics receives workload credit for e-consult completed


Geisinger Health System


Geisinger uses an EHR-based tool called Ask-a-Doc to allow the clinical genetics team to field “curbside consults”from clinicians in the health system. In addition to having a structured question and response format and documentation, Ask-a-Doc asks clinicians to include a preferred TAT for the response to their question. TAT options are within 1 hour,within 24 hours and within 48 hours. The clinical genetics team receives quarterly metrics on the degree to which theyanswered the consult question in the preferred time and the degree to which they documented their response in the EHRaccording to the system instructions.



Indiana University School of Medicine


  1. We have a Clinical Pharmacology consult service that is available that can handle the PGxconsults. It almost never gets used.
  2. We have CDS for >30 gene-drug pairs in our EHR; this may be relevant, but is not really a consultservice.
  3. We have a physician who is expert in drug interactions and PGx, Tom Callaghan, M.D., Ph.D., who has a special clinic setup for difficult cases of drug therapy adverse events and consults for PGx.
  4. In our Oncology Molecular Tumor Board, I review meds for drug interactions and if here is PGx genotyping, comment on any implications for the drug therapies. We also have a Tom Callaghan and couple clinical pharmacists involved in this. We are still working on getting PGx testing broadly used in all these patients.



Massachusetts General Hospital


  • In April 2021, we launched a “pooled” e-consult to field genetics and genomics questions at MGH.
    • Specialists from 3 different departments (Medical Genetics, Cancer Genetics, and PreventiveGenomics) were available to field e-consult questions.
  • A genetic counseling assistant (with the supervision of a genetic counselor when needed) would triagequestions referred to the service to the specialty department best equipped to answer the question.
  • Once triaged to a specific department, that department would decide if any further triage to a specific clinician wasnecessary.
  • We received 153 e-consult requests, and 122 were answered in an average of 3.2 days in the first year.Most (77%) of providers referring to the service were generalists in adult and/or pediatric medicine.
  • 95 e-consults were classified as being “actionable;” we found documentation that 82% of providerswho placed the e-consult followed through on the e-consult recommendations.
  • Our data also suggested e-consults reduced unnecessary visits and/or had the potential to improve the efficiency of visits. Of 122 e-consults that were answered, 27 recommended no further action. 18/122answered e-consult questions suggested familial testing first.
  • Link to article preprint: A Pooled Electronic Consultation Program to Improve Access to Genetics Specialists



University of Pittsburgh Medical Center


At UPMC we launched our Primary Care Precision Medicine Service in 2019 just before the pandemic started. Weare a multi-disciplinary team including one MD, two genetic counselors, one PharmD and one PharmD PGx fellow. We now also have a continuity resident from one of our Fam Med residencies and just hired a nurse practitioner.


Our clinic is predominantly virtual 2 days per week. We do hold two in person days per month for those who need in personexams or have barriers to virtual health care.


We see a broad range of patients from hereditary cancer risk assessment, pharmacogenomics, carrier screening,DTC interpretation/validation, on the primary care side to test facilitation, counseling and interpretation across adult specialty care predominantly neurology, endocrine, nephrology, rheumatology and are we are also developing a robustCTD (hypermobility) program as well.


Finally we have also implemented MCED in the clinic as an emerging precision medicine technology.


We did trial an e consult service in EPIC but it really just turned into a referral method as opposed to consultprocess.



Vanderbilt Children's Hospital


  1. GTOC (Genetic Test Ordering Consult). A clinical provider engages this service when he/she is trying todecide if a genetic test should be done and if so what test should be done.


  1. GTIC (Genetic Test Interpretation Consult). A clinical provider engages this service when he/she is tryingto interpret a genetic test result (molecular panel based, WES, WGS or other), understand the significance and what the next best steps should be.


The requests (Econsults) are made through EHR (EPIC) though a work flow that integrates within the normal clinicalworkflow and requires minimal input on part of the person requesting input. This then becomes part of the EHR.


As you can imagine if a GTOC Econsult is ordered more often than not a subsequent GTIC Econsult is requested.

Last updated: March 7, 2023