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Defining Best Clinical Practices in Genomic Testing of Healthy Individuals
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About this course

Defining Best Clinical Practices in Genomic Testing of Healthy Individuals

(Previewing required of presentations prior to webinar and learner engagement. Please send in questions ahead of the webinar via the Q&A))
*Click on the Course tab to review the recordings and click on Q&A to send in questions prior to the webinar. 

Thursday June 4, 2020

11:00 am – 12:00 pm ET

Applications of genomic testing have increased significantly and the model for integration into healthcare is evolving. Traditionally, genomic testing is initiated and managed by genetic professionals. Rapidly decreasing costs have increased demand for genetic testing in non-traditional areas, including use in healthy individuals to predict and prevent disease (termed “elective genomic testing”). This shift requires re-calibration of many established paradigms and careful evaluation of whether and how our current knowledge, which has been informed by indication-driven testing, can be applied in a predictive setting. While the medical community has intensified this debate, the demand for predictive testing is quickly increasing and a growing number of laboratories are offering tests for healthy individuals, ranging from targeted panels for actionable genes to whole genome sequencing. Guidance from professional societies is now urgently needed to educate consumers, physicians, and laboratories.


With the recent statement from the ACMG Board of Directors titled “Should secondary findings in genetics be used for general population screening?” (PMID 31019278), it is timely to discuss elective genomic testing.  For the first 15 minutes of the session, Birgit Funke will set the stage by providing a historical perspective and foundational information about delivery models of genetic information in healthy individuals. This will include defining terminology, regulatory frameworks and outlining key issues that need professional community consensus (such as defining what types of results should be returned to healthy individuals given our limited understanding of their positive predictive value as well as penetrance in this population).  Subsequently, four speakers will share data-driven and experience-based viewpoints.  The session will conclude with 45 minutes of a panel discussion guided by audience questions supplemented by group-polling tools (audience response system) and pre-prepared questions as needed.


Speakers for this session include David Bick, who published a paper in 2019 (PMID 30453057) proposing a framework to evaluate both analytical and interpretative components of genomic tests and illustrates how it can be used in the expanding landscape of elective genomic testing.  He will place this in the context of the evolution of his own practice as a medical provider.  Marc Williams, who has been spearheading implementing genetics, genomics and family history in routine clinical care, including evaluating the impact of next generation sequencing on an unselected patient population through the MyCode Community Health Initiative.  


Target Audience


All healthcare professionals interested in the diagnosis, management, treatment and prevention of genetic conditions and increasing their understanding of the genetic basis of common, chronic health problems affecting both children and adults will find the programming applicable to their practice.



  • From Sick-care to Health-care: The Shifting Landscape of Genomic Testing - A Call to Action - Birgit Funke, PhD, FACMG
  • Moving From Diagnostic to Elective Applications: A Medical Geneticist’s Perspective - David Bick, MD, FACMG
  • Lessons Learned from the MyCode Community Health Initiative - Marc S. Williams, MD, FACMG, MD
  • Genomic Screening in Healthy Individuals: Start Small, Don’t Oversell - Jonathan S. Berg, MD, PhD, FACMG  Jonathan S. Berg, MD, PhD, FACMG   Genomic Screening in Healthy Individuals: Start Small, Don’t Oversell
  • Advancing Population-Wide Whole Genome Sequencing in England - Mark Caulfield, FMedSci.                                                             

Learning Objectives

At the conclusion of this session, participants should be able to:

  1. Describe how whole genome sequencing conducted in individuals with no current diagnostic issues compares with diagnostic testing.
  2. Describe how whole genome sequencing conducted in individuals with no current diagnostic issues contrasts with diagnostic testing.
  3. List at least one argument supporting performing whole genome sequencing in healthy individuals.
  4. List at least one argument not supporting performing whole genome sequencing in healthy individuals.
  5. Discuss whether there is currently sufficient or insufficient data to decide whether there is a net benefit for whole genome sequencing in healthy individuals.
  6. Describe at least two challenges in interpretation of whole genome sequencing data in healthy individuals in contrast to affected individuals.
  7. Explain a framework proposed for determining which variants identified by whole genome sequencing should be reported in healthy individuals.
  8. Describe the arguments for including and for not including the ACMG 59 in healthy genome testing.
  9. Identify challenges and opportunities for implementing large scale elective genomic testing.



Jennelle C. Hodge, PhD

Associate Professor of Clinical Medical & Molecular Genetics

Indiana University School of Medicine

ACMG 2020 Program Committee Chair



Birgit Funke, PhD, FACMG

Associate Professor of Pathology (Part-Time), Harvard Medical School, Massachusetts General Hospital

David Bick, MD, FACMG

Chief Medical Officer and Faculty Investigator, Hudson Alpha Institute of Biotechnology

Marc S. Williams, MD, FACMG, MD 

Director and Professor Genomic Medicine Institute Geisinger

Jonathan Berg, MD, PHD, FACMG

Professor, Department of Genetics at the University of North Carolina at Chapel Hill

Mark Caulfield, FMedSci. Genomics England



Financial Disclosures

Disclosure Statement

It is the policy of the American College of Medical Genetics and Genomics to plan and implement all of its educational activities in accordance with the ACCME Essentials and Areas and ACCME® Policies to ensure balance, independence, objectivity and scientific rigor. In accordance with the ACCME® Standards for Commercial Support, everyone (speakers, moderators, committee members and staff) who is in a position to control the content of an educational activity certified for AMA PRA Category 1 Credit™ is required to disclose all financial relationships with any commercial interests (see definition below) within the past 12 months that creates a real or apparent conflict of interest. Disclosure must include financial relationships of the individual and those of their spouse/partner. Individuals who do not disclose will be disqualified from participating in a CME activity.

This disclosure pertains to relationships with ACCME-defined commercial interests whose products or services may be related to the subject matter of the presentation topic. Any real or apparent conflicts of interest related to the content of the presentations must be managed prior to the educational activity. ACMG will identify, review and resolve all conflicts of interests prior to an educational activity being delivered to learners.


  • ACMG will follow the ACCME’s expectation that no employees or owners of commercial interests will be involved as planners/faculty/presenters of a CME accredited activity.
  • The ACCME definition of a commercial interest is any entity producing, marketing, re-selling, or distributing health care goods or services consumed by, or used on, patients.
  • The ACCME does not consider providers of clinical service directly to patients to be commercial interests – unless the provider of clinical service is owned, or controlled by, an ACCME-defined commercial interest.
  • Diagnostic laboratories are not considered commercial interests unless they are owned by or have a sister organization which is a commercial interest.


Birgit Funke, PhD, FACMG

Has no relevant financial relationships to disclose.


David Bick, MD, FACMG

Has no relevant financial relationships to disclose.


Marc S. Williams, MD, FACMG, MD 

Has no relevant financial relationships to disclose.


Mark Caulfield, FMedSci.

Has no relevant financial relationships to disclose.


Moderators and co-moderator disclosures:

Jennelle C. Hodge, PhD

Has no relevant financial relationships to disclose.


Birgit Funke, PhD, FACMG

Has no relevant financial relationships to disclose.



Educational Credit


Accreditation Statement

The American College of Medical Genetics and Genomics is accredited by the Accreditation Council for Continuing Medical Education (ACCME) to provide continuing medical education for physicians.


Designation Statement

The American College of Medical Genetics and Genomics designates this live activity for a maximum of 2 AMA PRA Category 1 Credits™. Physicians should claim only the credit commensurate with the extent of their participation in the activity.


CE (Continuing Education for non-physicians): This activity has been approved for CE credits.
*The certificate is accepted by the ABMGG for certification.


Genetic Counselor Credit

The National Society of Genetic Counselors (NSGC) has authorized American College of Medical Genetics to offer up to 2 Category 1 contact hours for this activity. The American Board of Genetic Counseling (ABGC) will accept CEUs earned at this program for the purposes of genetic counselor certification and recertification.

ACMG will report completed accredited sessions to NSGC for credit certificates on December 4, 2020, December 3, 2021 and July 8, 2022. Submissions outside of these parameters may incur a processing fee of $35.


P.A.C.E.® CEUs- Laboratory Directors and Laboratory Personnel

ACMG is approved as a provider of continuing education programs in the clinical laboratory sciences by the American Society for Clinical Laboratory Science (ASCLS) Professional Acknowledgment for Continuing Education (P.A.C.E.®) Program. The American College of Medical Genetics and Genomics designates this OnDemand course for a maximum of 2 contact hours. ACMG is approved by the Florida Board of Clinical Laboratory Personnel as CE Provider #50-11878. This course is registered # 20-775394 with CEBroker.  ACMG is approved by the California Department of Health Services through the ASCLS P.A.C.E.®


Claiming your Educational Credits

Complete the activity and carefully complete the evaluation form. Deadline to claim educational credits is within 30 days from the date of the webinar. ACMG will not accept any credit request for live meetings after that period.


HIPAA Compliance

The ACMG supports medical information privacy.  While the ACMG is not a “covered entity” under HIPAA 1996 and therefore is not required to meet these standards, ACMG wishes to take reasonable steps to ensure that the presentation of individually identifiable health information at ACMG-sponsored events has been properly authorized.  All presenters have completed a form indicating whether they intend to present any form of individually identifiable healthcare information.  If so, they were asked either to attest that a HIPAA-compliant consent form is on file at their institution, or to send ACMG a copy of the ACMG HIPAA compliance form. This information is on record at the ACMG Administrative Office and will be made available on request.


Content Validation

ACMG follows the ACCME policy on Content Validation for CME activities, which requires:


Content Validation and Fair Balance

  1. ACMG follows the ACCME policy on Content Validation for CME activities, which requires:
  1. All recommendations involving clinical medicine must be based on evidence that is accepted within the profession of medicine as adequate justification for their indications and contraindications in the care of patients.
  2. All scientific research referred to, reported or used in CME in support or justification of patient care recommendations must conform to the generally accepted standards of experimental design, data collection and analysis.


  1. Activities that fall outside the definition of CME/CE; “Educational activities that serve to maintain, develop, or increase the knowledge, skills, and professional performance and relationships that a physician uses to provide services for patients, the public, or the profession” (source: ACCME and AMA) will not be certified for credit. CME activities that promote recommendations, treatment, or manners of practicing medicine or pharmacy that are not within the definition of CME/CE or, are known to have risks or dangers that outweigh the benefits or, are known to be ineffective in the treatment of patients.
  2. Presentations and CME/CE activity materials must give a balanced view of therapeutic options; use of generic names will contribute to this impartiality.  If the CME/CE educational materials or content includes trade names, where available, trade names from several companies must be used.


Off-label Uses of Products

When an off-label use of a product, or an investigational use not yet approved for any purpose, is discussed during an educational activity, the accredited sponsor shall require the speaker to disclose that the product is not labeled for the use under discussion, or that the product is still investigational. Discussions of such uses shall focus on those uses that have been subject of objective investigation.



The ACMG does not endorse, or recommend the use of this educational program to make patient diagnoses, particular by individuals not trained in medical genetics. Adherence to the information provided in these programs does not necessarily ensure a successful diagnostic outcome. The program should not be considered inclusive of all proper procedures and tests or exclusive of other procedures and tests that are reasonably directed at obtaining the same results. In determining the propriety of any specific procedure or test, a healthcare provider should apply his or her own professional judgment to the specific clinical circumstances presented by the individual patient or specimen.



Availability: Retired
Cost: ACMG Member: $30.00
Non-Member: $55.00
Postdoc/Trainee (M): $30.00
Postdoc/Trainee (NM): $55.00
Student (M): $30.00
Student (NM): $55.00
Credit Offered: No Credit Offered
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