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Webinar Date

Wednesday, October 10, 2018
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2:00 PM Eastern 1:00 PM Central
12:00 PM Mountain 11:00 AM Pacific


During the ACMG Genomics Case Conferences, a team from Memorial Sloan Kettering Cancer Center and Harvard Medical School, will present and lead discussions on an intriguing, complex and/or difficult patient cases in the area of genomics. The primary focus of these case conferences will be on the adaptation of exome or genome sequencing technology in clinical care.

Session Description

Newborn genomic sequencing (nGS) provides the opportunity to detect a wide range of conditions for which early knowledge can improve health outcomes, while challenges exist in the interpretation and reporting of nGS results. The BabySeq Project is a randomized controlled trial within the NewbornSequencing in Genomic Medicine and Public Health (NSIGHT) consortium that explores the use of genomic sequencing in newborns. Two cohorts consisting of healthy newborns from the well baby nursery or ill newborns from neonatal intensive care units are enrolled, and participants are randomized to receive either standard of care only or genomic sequencing in addition to standard of care. Here we present two cases encountered in the BabySeq Project that illustrate the challenges of analyzing and reporting nGS results and our approaches to overcome them.

Target Audience

  1. Clinical geneticists; genetic counselors; pediatric, obstetric, and maternal-fetal specialists; and all medical practitioners who are providing comprehensive diagnostic, management, and counseling services for patients with, or at risk for, genetically influenced health problems.
  2. Laboratory directors and technicians who conduct genetic testing, researchers involved in the discovery of genetic disorders and treatments and any healthcare and public health professionals who have an in interest medical and clinical genetics and genomics.

Overall Learning Objectives

At the conclusion of the series, participants should be able to:

  1. Describe the clinical utility of whole exome/whole genome sequencing tests
  2. Identify clinical indications for whole exome/whole genome sequencing
  3. List determinants used to assess the probability of a variant's pathogenicity
  4. Elaborate on the importance of pre-test counseling and consent

Session Learning Objectives

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

  1. Describe approaches to genomic sequencing interpretation for sick newborns in the NICU
  2. Identify challenges in phenotype-driven genomic sequencing analyses in newborns
  3. Address the complexities when unexpected results are returned to families
  4. Illustrate the impact of genomic information on families and on future medical care


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.

Credit Designation

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

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.
  2. 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.
  3. 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.

Disclosure Statement:

The American College of Medical Genetics and Genomics has implemented a process where everyone who is in a position to influence and/or control the content of a continuing education activity must disclose all relevant financial relationships with any commercial interest within the past 12 months and any conflicts must be resolved prior to the activity. Participants of educational programs must be informed of an organizer's and/or a presenter's academic and professional affiliations and existence of any relevant financial relationship a presenter has with any proprietary entity producing heath care goods or services consumed by, or used on patients, with the exemption of non-profit or government organization and non-health care related companies. The intent of this disclosure is not to prevent a speaker from making a presentation. This policy allows the participant to be fully knowledgeable in evaluating the information being presented. All disclosures have been reviewed by the Education Committee COI sub-committee or the Executive Director and CME Associate Director and conflicts of interest are disclosed. Disclosure includes any relevant relationship that may potentially bias the planning of the continuing education activity or may potentially bias one's presentation or which, if known, could give the perception of bias. These situations may include but are not limited to:

  1. Major stockholder/ownership interest
  2. Grant/Research Support (External)
  3. Salary/Employment
  4. Royalty(ies)
  5. Honoraria
  6. Consultant/consulting fees/other remuneration
  7. Speakers bureau
  8. Non-remunerative positions of influence such as officer, board member, trustee, or public spokesperson
  9. Receipt of intellectual property
  10. Other (Explain) _________________________________________

Financial Disclosures

Planning Committee

Monica Giovanni, MS, CGC
Geisinger Health System, Brookline, MA
Nothing to disclose

Anne Slavotinek, MB.BS., PhD, FACMG
Disclosures: Grant/Research Support National Eye Institute and National Institutes of Health
Royalties: Oxford University Press, UptoDate

John Bernat, MD, PhD
University of Iowa
Disclosures: Receives grant/research support from Sanofi Genzyme, Shire and Protalix

Staff - American College of Medical Genetics and Genomics

The following have nothing to disclose.
Jane Radford, MHA, CHCP
Claudia Barnett
Michael Watson, PhD, FACMG

Presenters and Disclosures

Ingrid A. Holm, MD, MPH, FACMG
Associate Professor of Pediatrics, Harvard Medical School
Dr. Holm has no disclosures.

Ozge Birsoy, PhD, FACMG
Assistant Attending, Clinical Molecular Geneticist,
Diagnostic Molecular Genetics Laboratory; Memorial Sloan Kettering Cancer Center
Dr. Birsoy has no disclosures.

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.


ACMG educational programs are designed primarily as an educational tool for health care providers who wish to increase their understanding of the application of genomic technologies to patient care. 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.

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