DNA-based Screening and Population Health: ACMG ‘Points to Consider’

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. Discuss the key points to consider regarding implementing DNA based screening programs among the general public
2. Describe how to address disparities in the context of population-based screening programs

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 7/9/20 through 7/9/22, 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 post-test and evaluation. Upon registering and successfully completing the post-test with a score of 100% and the activity evaluation, your certificate will be made available immediately.

For Pharmacists: Upon successfully completing the post-test with a score of 100% and the activity evaluation form, transcript information will be sent to the NABP CPE Monitor Service within 4 weeks.

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 0.25 contact hours.

Read Disclaimer & Fine Print

SUMMARY:

New DNA technologies make screening for genetic conditions in the general population possible. ACMG has delineated ‘points to consider’ prior to initiating broad population-based screening. While such screening programs hold the potential to improve general population health, identification of disease risk is of benefit if coupled with “evidence based risk reducing clinical care.”

KEY POINTS:

ACMG ‘secondary findings’ should not be used for screening purposes
- ACMG has a list of 59 genes and 30 conditions that should be reported, even if the initial genetic test requisition was for another unrelated disorder
- This list was created because these specific genes and disorders are medically actionable, for example, pathogenic BRCA1 mutations
- In theory, one could make the case for screening everyone for these disorders but broad based screening for secondary findings is not a viable cost-effective option for the population at large
DNA-based screening should not replace diagnostic assessment
- Individuals with a personal or family history of disease are at increased risk and need diagnostic testing, not a screening test
- Limited DNA based-screening can do more harm than good for this population
- Example: A negative screening BRCA1/2 result that only looks for common variants in an individual with significant family history of breast and ovarian cancer may miss the causative variant, thus giving a false sense of security for a “screened negative individual.”
Disease risks identified through screening should not include DNA variants of uncertain significance (VUS)
- ACMG has set forth five categories of genetic variant interpretation: Benign (B), Likely Benign (LB), Variant of Uncertain Significance (VUS), Likely Pathogenic (LP), and Pathogenic (P)
- Over time, a VUS may be upgraded to likely pathogenic or downgraded to likely benign
- In an effort to promote risk-reducing care, only pathogenic and likely pathogenic variants should be reported
DNA-based screening should be linked to evidence-based clinical care pathways
- A key requirement for population based screening is that follow-up be made available following screening
- If an individual has a positive screening test but does not have access to follow-up care, there can be no improvement in health outcomes
Follow-up for DNA-based screening should be consistent with best practices and professional guidelines
- Expect guidelines to change as knowledge expands
Organizations involved in DNA-based screening are expected to participate in data-sharing
- All data should be de-identified
DNA-based screening that have proven benefits across populations should be offered to everyone
- Critical to promote health-care equity and limit health disparities
- Newborn screening (NBS) serves as a model program
- Collaboration harnesses the power of state-driven public health initiatives

Learn More – Primary Sources:

DNA-based screening and population health: a points to consider statement for programs and sponsoring organizations from the American College of Medical Genetics and Genomics (ACMG)

Take a post-test and get CME credits

Want to stay on top of key guidelines and research papers?

ObGFirst® – Try It Free! »

< Previous

All The Genome Posts

Next >

DNA-based Screening and Population Health: ACMG ‘Points to Consider’