Physicians Assistants and Genomic Medicine Meeting Summary

National Human Genome Research Institute

National Institutes of Health
U.S. Department of Health and Human Services


Physician Assistants and Genomic Medicine

Meeting Summary

September 19, 2007
Meeting Summary
Meeting Agenda
Meeting Participants

The second "Physician Assistants and Genomic Medicine" meeting was held at the Natcher Conference Center of the National Institutes of Health (NIH) in Bethesda, MD on September 19, 2007. The conference was organized and supported by the National Human Genome Research Institute (NHGRI) with participation of leadership from the Accreditation Review Commission on Education for the Physician Assistant (ARC-PA), the American Academy of Physician Assistants (AAPA), the National Commission on Certification of Physician Assistants (NCCPA), and the Physician Assistant Education Association (PAEA). Representatives of the American College of Medical Genetics (ACMG), the National Coalition for Health Professional Education in Genetics (NCHPEG), the National Society of Genetic Counselors (NSGC), and the Office of the Surgeon General (OSG) were also in attendance.

The goals of this meeting were to: 1) provide an opportunity for the Physician Assistant organizations to share information regarding their activities in the arena of genetics and genomics since the March meeting, 2) identify gaps and means to close them, 3) discuss potential roles for the participating organizations in expanding the knowledge base of Physician Assistant faculty, students and graduates regarding the application of genomics to healthcare, and 4) plan next steps for all of the organizations in attendance.

The NHGRI is pleased to present this summary of the meeting proceedings. NHGRI would like to thank all of the presenters and participants for their active participation and for their thoughtful contributions that form the basis for this summary.

The body of this report summarizes each session and concludes with the next steps proposed by each of the participating organizations and recommendations from the meeting.

Welcome and Introductions

The conference opened with welcoming remarks from Dr. Alan Guttmacher of NHGRI and Michael Rackover, PA-C, M.S. of Philadelphia University. Both recognized the work of the Physician Assistant (PA) organizations and others since the meeting in March. They underscored that the four PA organizations work very well together and can serve as role models to other health professional organizations.

A series of talks were then presented, with interactive discussion periods following each talk. Brief summaries of the talks and discussion points follow:


Update on the Genetic Information Non-discrimination Act (GINA) and implications for PA practice-Alan Guttmacher, M.D.

It has been a dozen years since genetic nondiscrimination legislation was first introduced in Congress. The Senate passed a similar version of GINA in both 2003 (vote of 95-0) and 2005 (vote of 98-0), but both times the House did not take action on the bill. The good news is that the House passed GINA by a vote of 420-3 (H.R. 493) in April of this year. The Senate bill (S. 358) has passed the HELP committee but has not been acted upon. It is reported that Senator Coburn of Oklahoma, and possibly one additional Senator, has a hold on the bill which keeps it from moving to a vote. There are ways to get around holds in the Senate (one is via cloture), but they may not be viable options at this time. An additional option is to attach GINA to another bill that will probably be passed, but there are possible problems with this approach, as well. It is fairly clear that if GINA actually comes to a vote, it would pass and the President would sign it.

If GINA is not brought to a vote before the end of the year, it could be brought up again next year; however, since next year is an election year, it may be difficult to move it then.

Discussion

What is the impact of GINA on health care providers?
What is the effect of concern about genetic discrimination in health care and employment on Genetic Counseling?

Update on Genome-Wide Association Studies (GWAS) - Teri Manolio, M.D., Ph.D.

GWAS Update Powerpoint Slides

Since 2005, over 30 genome-wide association studies have identified robust associations with genetic variants for nearly 20 complex diseases and traits, including age-related macular degeneration, QT interval prolongation, neovascular AMD, inflammatory bowel disease, type 2 diabetes, Crohn's disease, and obesity. This year, researchers have consistently replicated associations found for celiac disease, colorectal cancer, childhood asthma, multiple sclerosis, and many more.

A GWA study is a method for interrogating all 10 million variable points (single nucleotide polymorphisms - or "SNPs") across the human genome. Variation tends to be inherited in groups of DNA, or blocks, so not all 10 million points have to be tested. Technology now allows studies to use ~300,000 to 500,000 markers to represent the entire human genome adequately. Progress in genotyping technology has decreased the cost considerably in the past few years. The cost of genotyping 300,000 - 500,000, or even more, markers is now about $500 per person. For example, performing a genome-wide association study in 2,000 people cost about $20 billion in 2001; in 2007, the same study would cost about $1 million (due to decrease in number of SNPS needed as well as cost per SNP).

GWA studies have provided a tsunami of data. The GWA approach is unique since it permits examination of inherited genetic variability at unprecedented level of resolution and it permits "agnostic" genome-wide comparison. Most robust associations found in GWA studies have not been with genes previously suspected of being related to the disease, and some associations have been found in regions not even known to harbor genes.

NIH currently hosts two databases that store GWA data: the Database of Genotype and Phenotype (dbGAP), run by the National Center for Biotechnology Information; and the Cancer Biomedical Information Grid (caBIG), run by the National Cancer Institute.


Discussion:


Update from the Accreditation Review Commission on Education for the Physician Assistant - Laura Stuetzer, MS, PA-C

ARC-PA Update Powerpoint Slides

The ARC-PA protects the interests of the public, including current and prospective PA students, and the PA profession by defining the standards for PA education and evaluating PA educational programs within the territorial United States to ensure their compliance with those standards. The ARC-PA has been in existence as a free standing organization since 2001. There are currently 139 accredited PA programs in the US (entry level PA programs). There are currently no accredited residency programs for PA education. The last accreditation meeting was held a few weeks ago, and three new programs were added to the accreditation list.

The ARC-PA develops and maintains the standards for the profession, which are competency based. The standards do not prescribe a specific degree or method for meeting the standards. The standards include a requirement for instruction in basic medical science, to include genetic and molecular mechanisms of health and disease. The standards require curriculum to include core knowledge about the established and evolving biomedical and clinical sciences and the application of this knowledge to patient care. The standards also require the curriculum to be of sufficient breadth and depth to prepare the student for the clinical practice of medicine.

During the accreditation review process, programs are cited when they do not rigorously meet the required standards. A citation includes a letter to the Dean of the program's institution, and the program is required to report back to the ARC-PA within a certain timeframe explaining how they are addressing the issue. Citation topics are used to develop workshops throughout the year.


Update from the National Commission on Certification of Physician Assistants (NCCPA) - William Kohlhepp, MHA, PA-C

NCCPA Update Powerpoint Slides

Activities regarding genetics/genomics at the NCCPA have taken place in the following three areas since the March meeting:

  1. Exam Content
  2. Though genetics is not featured explicitly as a subcategory on NCCPA's exams, questions regarding genetics-related issues are included in the exam in several areas. The next Practice Analysis will be conducted in 2009-2011, which will offer an opportunity to ask new and more explicit questions about what PAs are doing in the areas of genetics and genomics. In turn, that will position NCCPA to change the way those topics are incorporated into the exams. In the meantime, the NCCPA is beginning to code new items on the exam with a genetics code when applicable. NCCPA is also conducting a review of its item bank and including genetics coding in that review. A new item writer with experience in genomics will be added in 2008. Someone with genomics experience will also be included on the next Practice Analysis Committee.

  3. Promotion
  4. NCCPA has taken steps to educate their Board about genetics by providing them with written reports in both May and August. They will also provide a more in-depth presentation to the group at their meeting in November and would welcome a talk by either Francis Collins or Alan Guttmacher at that Board meeting. NCCPA is also promoting genomics through other ongoing projects. The NCCPA Foundation is promoting the U.S. Surgeon General's Family History Initiative through their website.

  5. Research
  6. The NCCPA Foundation has set aside research funds for their next RFP to be released in January. Genetics/genomics could be included as a topic of interest in the RFP.


Update from the Physician Assistant Education Association (PAEA) - Anita Duhl Glicken, MSW

PAEA Update Powerpoint Slides

In follow-up to the March meeting, PAEA published a summary of the meeting in the PAEA Networker. They also confirmed Dr. Collins' presentation, "Physician Assistants and Personalized Medicine" at the PAEA Annual Education Forum in October 2007.

Over the summer, results from the PAEA member program genetics survey were published in the Journal of Physician Assistant Education (vol. 18, no. 2, July 2007). Additionally, an editorial by Bruce Korf was published in the same journal edition.

In the fall, PAEA coordinated the "Put a Face on Genetics Campaign" for the 2007 PAEA education forum. They also announced the launch of the NCHPEG PA Website for educators. Additionally, a workshop presentation by Rackover and Healy has been scheduled entitled "Developing Instruction in Genetics and Genomics."

Future activities include the push to use the PA profession as a lab for educating health care providers regarding genetics. Evaluation and outcomes will be important in developing educational/curriculum resources (faculty development, curriculum resources, resource sharing).


Update from the American Academy of Physician Assistants (AAPA) - Robert McNellis, P.P.H., PA-C

AAPA Update Powerpoint Slides

The AAPA has engaged their membership in genetics/genomics activities in several ways over the past six months. At their 2007 annual conference, AAPA conducted a survey of its House of Delegates that included genetic-oriented questions (see "Presentation and discussion of PA survey results," below) and provided exhibit hall space for NCHPEG and OSG. At least eight hours of continuing medical education offered at the conference included information on medical genetics. AAPA has included several articles focused on genetics in its newsletter over the past six months, in addition to adding genomics information on its website. AAPA has promoted the NCHPEG web-based CME to its membership and will continue to do so throughout the year. To date, the web-based CME has received nearly 3,000 visits with 77 PAs having completed Case #1, 59 PAs having completed Case #2 and 51 PAs having completed Case #3.

In preparation for its 2008 annual conference, AAPA plans to work with NCHPEG to develop a medical genetics track that will provide a daily session with key genetic content. A session on race and genetics is also being planned (co-sponsored by AAPA's African Heritage Caucus, its Committee on Diversity, and NCHPEG).

Other activities include the continuation of Doug Scott's "Genomics series" in AAPA News, the addition of pertinent survey questions in the Annual Conference Survey (over 2000 respondents), development of a needs assessment tool, review of AAPA policy statements, engaging the JAAPA editorial board, and development of expanded relationships with other genetics organizations, advisory committees, etc. AAPA has also been involved in legislation, policy, and partnership activities regarding genomics.


NHGRI Activity Update - Greg Feero, M.D., Ph.D.

NHGRI Activity Powerpoint Slides

NHGRI has been involved in many new activities since the meeting in March, including:
  1. Personalized Healthcare Workgroup (part of the American Health Information Community). The goal is to bring some standardization to how Electronic Health Record systems deal with family history and genetic test information, and to facilitate clinical decision support.
  2. Essential Nursing Competencies and Curricula Guidelines for Genetics and Genomics. To date, 48 nursing groups have endorsed the competencies. A meeting was held last week to discuss how to build a toolkit for nursing faculty.
  3. "Have you seen Mary...or Fred...or Bob?" Five draft poster-format messages have been developed to target PA's focus on family history. The posters address hereditary breast and ovarian cancer syndrome, diabetes, coronary artery disease, HNPCC, preconception care (Tay-Sachs). Greg Feero welcomes feedback on the posters' content and format. He also welcomes any thoughts regarding appropriate venues for distribution.
  4. Top 12 list: How do we move forward with these topics? Who are the targets, what is the distribution venue? Who will further populate the list? The group discussed the list and agreed it would be best reformulated to again be a "top 10" list.
  5. Other tools and areas to consider:

    Poster presented at NCHPEG regarding building a model curriculum for family medicine residency education.


Presentation and Discussion of PA Survey Results - Michael Rackover, PA-C, M.S., and Robert McNellis, P.P.H., PA-C

PA Survey Results Powerpoint Slides

A survey of the AAPA's 2007 House of Delegates was conducted in May 2007. The 19-question survey (3.5 minutes to complete) was handed out on the last day of the three-day meeting. Murugu Manickam, a Medical Genetics Fellow on rotation at NHGRI, analyzed the relevant data from the 113 surveys returned. A brief summary of the results (see attached PowerPoint for more detailed data) is as follows:

There was also discussion of possibly holding focus groups focused on the vignettes at the meeting.


A Quick Tour of ClinSeq and Multiplex as Examples of NIH Translational Research - Greg Feero, M.D., Ph.D., Jean Jenkins, R.N., Ph.D., Michael Rackover, M.S., PA-C

NIH Translation Research Powerpoint Slides

Is adult medicine ready for the transition of care from pediatric medicine to adult medicine for those with single gene disorders? This could be the focus of a research project.

Genomic discoveries relevant to common disease diagnosis and management are coming at an increasing rate, and basic discoveries are leading to the development of clinical application; however, there is a gap between developing clinical applications and improved healthcare. Bench scientists, clinical scientists, clinicians, and patients all need to work together to fill the gap.

NGHRI currently funds these three major projects that address translational questions:

  1. The Multiplex Project is designed to develop a prototype for multiplex genetic susceptibility testing (how to consent and how to provide feedback and support) and to create an infrastructure to facilitate public health research.
  2. ClinSeq is a translational research project in clinical genetics. The aims of ClinSeq are to develop a robust infrastructure for the generation and use of large-scale medical sequencing (LSMS) in a clinical research setting, to use LSMS data to develop novel approaches to clinical biomedical research, and to understand how to interact with subjects re LSMS.
  3. The Health Professionals' Understanding of Human Genetic Variation Study (PUHGV) aims to investigate health professionals' knowledge of human genetic variation and their beliefs about biological and genetic differences based upon their patients' race and ethnicity and the impact of these on clinical practice. Vence Bonham is interested in involving the PA community in this survey.

Translation of Genomic Discoveries to Primary Care - A role for the PA? - Moderated Discussion

We need one or two good examples of that will become the standard of care as a result of genomic medicine. One example is Warfarin and the change in its labeling by the FDA to allude to the fact that genotyping of two genes provides an important guide for selection of dosing. Genetic tests are now being offered associated with this.

We need an opportunity to engage the PA community in family history. The idea of patient use of the Surgeon General's My Family Health Portrait Tool in advance of clinic visit needs to be instituted.

It would be useful to collect real world examples from PAs regarding genetics and patients they have seen in practice.

Soon, there will be a massive marketing program by 23andMe and Navigenics to market the opportunity for members of the public to have their genomes sequenced. As people begin to take advantage of these offers, they may bring the results to their health care providers for guidance.

The nursing community is hoping to hold a state of the science conference regarding integration of genetics/genomics into nursing care and whether or not this actually makes a difference to outcomes of care.

NHGRI is working with the NIH Office of Medical Applications of Research (OMAR) to organize a state of the science conference on use of family history as a screening tool in primary care. The planning committee is currently being formed.

A baseline survey could be conducted at the 2008 AAPA meeting to get information from workshop attendees. A more in-depth follow-up could involve a chart review to see if family history data is being collected.

Three is a need to build infrastructure and partnerships within PA organizations to do research. In coming years, it will be critical to engage PAs in research in order to learn if what we are doing is accomplishing its goal. The establishment of a research oversight group will be added to the agenda for the four-PA organization meeting in December.

What if NHGRI decided to find out how the family history approach using a standardized tool operates in practice, and could offer ~$100,000 in funding? Is there a structure within the PA community that could respond to such an RFP? Yes, PA organizations have collaborated on other federal contracts/grants in the past. An opportunity like that could allow the PA organizations to form a research group.

Develop a toolkit for PA instructors to use to teach genetics?


Discussion of Next Steps - Francis Collins, M.D., Ph.D.

Each of the participating organizations presented their plans for the future:

Closing Comments - Francis Collins, M.D., Ph.D.

Opportunities for genetic testing and sequencing are moving forward at a rapid pace. We need to prepare for the time when every day applications of genomics begin to show up in practice.

NHGRI is serious about the possibility of providing a research opportunity for data gathering about the effectiveness of the use of the U.S. Surgeon General's My Family Health Portrait in practice.

We will plan to re-convene this group in twelve months. We will hold a teleconference of the group in about six months to catch up on ongoing activities.

Action items from our discussions today include:
  1. NHGRI will update the PA organizations and other participants regarding plans to promote family history this Thanksgiving.
  2. NHGRI will distribute electronic versions of the "Have you seen Mary?" campaign posters to the group for feedback. Group members are asked to pay specific attention to the diabetes poster, as it may be used as a promotional item for this Thanksgiving's National Family History Day.
  3. NHGRI, with help from others, will further refine the Top 10 list.
  4. NHGRI will share a list of contacts from other disciplines with the group.
  5. NHGRI will distribute Vence Bonham's e-mail address to the group, for contact regarding the Health Professionals' Understanding of Human Genetic Variation Study: bonhamv@mail.nih.gov
  6. Group members are asked to feed any genetics or genomics story ideas to Doug Scott of AAPA at dscott@aapa.org.

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Last Reviewed: February 26, 2012