The Genome

CMECNE

The Genome and Whole Genome Sequencing

Learning Objectives and CME/Disclosure Information

This activity is intended for healthcare providers delivering care to women and their families.

After completing this activity, the participant should be better able to:

1. Contrast ‘the genome’ with ‘whole genome sequencing’ (WGS)
2. Relate which individuals are most likely to benefit from WGS

Estimated time to complete activity: 0.25 hours

Faculty:

Susan J. Gross, MD, FRCSC, FACOG, FACMG
President and CEO, The ObG Project

Disclosure of Conflicts of Interest

Postgraduate Institute for Medicine (PIM) requires faculty, planners, and others in control of educational content to disclose all their financial relationships with ineligible companies. All identified conflicts of interest (COI) are thoroughly vetted and mitigated according to PIM policy. PIM is committed to providing its learners with high quality accredited continuing education activities and related materials that promote improvements or quality in healthcare and not a specific proprietary business interest of an ineligible company.

The PIM planners and others have nothing to disclose. The OBG Project planners and others have nothing to disclose.

Faculty: Susan J. Gross, MD, receives consulting fees from Cradle Genomics, and has financial interest in The ObG Project, Inc.

Planners and Managers: The PIM planners and managers, Trace Hutchison, PharmD, Samantha Mattiucci, PharmD, CHCP, Judi Smelker-Mitchek, MBA, MSN, RN, and Jan Schultz, MSN, RN, CHCP have nothing to disclose.

Method of Participation and Request for Credit

Fees for participating and receiving CME credit for this activity are as posted on The ObG Project website. During the period from Dec 31 2017 through Jan 25 2023, participants must read the learning objectives and faculty disclosures and study the educational activity.

If you wish to receive acknowledgment for completing this activity, please complete the test and evaluation. Upon registering and successfully completing the test with a score of 100% and the activity evaluation, your certificate will be made available immediately.

Joint Accreditation Statement

In support of improving patient care, this activity has been planned and implemented by the Postgraduate Institute for Medicine and The ObG Project. Postgraduate Institute for Medicine is jointly accredited by the Accreditation Council for Continuing Medical Education (ACCME), the Accreditation Council for Pharmacy Education (ACPE), and the American Nurses Credentialing Center (ANCC), to provide continuing education for the healthcare team.

Physician Continuing Medical Education

Postgraduate Institute for Medicine designates this enduring material for a maximum of 0.25 AMA PRA Category 1 Credit(s)™. Physicians should claim only the credit commensurate with the extent of their participation in the activity.

Continuing Nursing Education

The maximum number of hours awarded for this Continuing Nursing Education activity is 0.2 contact hours.

Read Disclaimer & Fine Print

WHAT IS IT?

The genome is the collective total of an individual’s DNA, including all genes
- The human genome is composed of over 3 billion base pairs
- Genes that code for proteins or other functional molecules only constitute a fraction of total DNA
- Research is ongoing to look at all regions of the genome and their complex interactions
The Human Genome Project (completed 2003) established an overall ‘human’ consensus genome, though every individual has variations from the consensus in their personal genome
- Most of an individual’s gene variations have no impact on gene function
- Some variations that will impact gene function have an important role in disease causation
- It can be unclear in some instances what the impact of certain genetic variations is, and whether or not they contribute to clinical findings
  - These are referred to as variants of uncertain significance (VUS)

Whole Genome Sequencing (WGS)

Analysis of the genome is typically performed using DNA sequencing technologies and often referred to as Whole Genome Sequencing (WGS)
WGS is generally considered in individuals with rare diseases or syndromes for whom testing of specific potentially disease-causing genes have not identified any disease causing gene mutations
WGS will not detect all types of genetic changes, such as large deletions of genes/DNA regions, and possibly smaller DNA insertions and deletions

KEY POINTS:

WGS analysis will generally require a blood sample
- Requirements will vary by laboratory
Results from WGS will not always yield definitive, actionable results that confirm a diagnosis
- Findings may indicate a Variant of Uncertain Significance (VUS) and further follow up may be required over time to determine whether or not the variant is benign or pathogenic
- WGS testing may often be most informative when an individual’s family members are also tested or willing to be tested to clarify result interpretation
Genetic counseling is recommended pre- and post-WGS analysis
Thorough informed consent process is imperative given the potential for results that may or may not be definitive

Learn More – Primary Sources:

National Human Genome Research Institute Fact Sheets

ACMG: Points to Consider for Informed Consent for Genome/Exome Sequencing

Locate a Genetic Counselor or Genetics services:

Genetic Services Locator-ACMG

Genetic Services Locator-NSGC

Genetic Services Locator-CAGC

Take a post-test and get CME credits

TAKE THE POST TEST

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The Genome and Whole Genome Sequencing