At this year’s National Society of Genetic Counselors annual conference, an impressive panel was assembled that shared the developments of a historic meeting. The lessons shared will need to be applied even more as prenatal testing progresses.
The NSGC 2014 meeting was held in New Orleans, Louisiana. That makes the fact that there were over 250 genetic counselors attending a session that started at 8 a.m. on a Saturday morning all the more telling about how impressive this panel and its presentation was.
- Janice Edwards, GC: the organizer of the meeting;
- Richard Ferrante, PhD: Director of the University Center for Excellence in Developmental Disabilities at University of South Carolina and co-chair with Edwards of the meeting;
- Judith Beckendorf, GC: executive staff member for the American College of Medical Genetics;
- Angela Trepanier, GC: then-President of NSGC;
- Nancy Rose, MD: Chair, American College of Obstetricians & Gynecologists’ Genetics Committee;
- Katie Berrier, GC: recorder of minutes of meeting;
- Cam Brasington, GC: member of NSGC, NDSC professional advisory panel, board member of Down Syndrome Association of Greater Charlotte;
- David Hoppe: then-board member of National Down Syndrome Society, longtime senior Senate staff member, and father of a son with Down syndrome.
Pulling this group together was my colleague at the National Center for Prenatal & Postnatal Down Syndrome Resources, Stephanie Meredith, MS, and author of the Lettercase booklet Understanding a Down Syndrome Diagnosis.
Members of this group convened five years ago to address the tension between the Down syndrome community and medical community. Almost every speaker mentioned “tension” when describing the start of the meeting.
This tension, while always there, was inflamed by the ACOG guidelines changing the standard of care so that prenatal testing for Down syndrome was now to be offered to all expectant women. Down syndrome advocates condemned the guidelines, referring to it as modern-day eugenics, causing the medical community to view members of the Down syndrome community as zealot pro-lifers.
Edwards saw this rift between the medical and the tested-for communities and wanted to try to bridge that gap. So, she and Ferrante convened this meeting of representatives of the two communities to address this tension.
The tension existed because the attendees saw each other based on what group they were representing. Each had presumptions about the other, with the expectation that they did not understand the other.
By the end, Edwards would describe the process as a “group counseling session.” It took the attendees to get to know and see each others as individuals, not as a “representative” of a given organization defined by stereotypes and misconceptions. Once that happened, then those around the table could identify areas they agreed on.
Edwards took the laboring oar of memorializing the results of the meeting in an on-line publication available at this link. It details the areas of consensus, which included:
- Health professional education about Down syndrome based on the most up-to-date information is necessary.
- Information and counseling provided to parents regarding a prenatal or postnatal genetic diagnosis should be complete, consistent, non-judgmental, and non-coercive.
The representatives committed to working together on patient education materials. Out of this process the booklet Understanding a Down Syndrome Diagnosis was revised based on input from representatives of the Down syndrome and medical organizations.
Legacy of consensus
Beyond detailing the effort of the consensus meeting and the revisions to the Lettercase booklet, the attendees further detailed the legacy of that meeting. These included:
Katie Berrier & Cam Brasington going on to lead a team in publishing the NSGC guidelines on delivering a Down syndrome pre- or post-natal diagnosis based on the information that both medical professionals and parents of children with Down syndrome agreed was most relevant;
- The American Academy of Pediatrics new healthcare guidelines for individuals with Down syndrome seeking input from consumer groups based on ACMG’s representative Dr. Bob Saul’s participation in the consensus effort;
- The ACMG seeking Dr. Brian Skotko as a stakeholder from the Down syndrome community to be part of the team that drafted its statement on non-invasive prenatal screening.
So, three different professional medical organizations promulgated guidelines informed by the consensus effort.
Legacy to come
From the questions following the presentation, it was clear that consensus will need to be reached with many other tested-for communities. Attendees asked about how they could conduct a similar process to address prenatal testing for other trisomies and 22q, one of the conditions added to the panel by some NIPS labs.
The legacy of guidelines being drafted with input from members of the tested-for community provides the surest way to have a lasting impact on clinical practice. The NSGC, AAP, and ACMG have all sought out the input of the tested-for community in their most recent guidelines concerning Down syndrome.
Hopefully, those in attendance and those who learn of the consensus effort will commit to involving members of the tested-for conditions as they consider, draft, and revise current and new statements, committee opinions, and guidelines.
Doing so will go along way towards bridging the gap and reducing the tension between the medical and the disability communities.