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.
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:
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.
What is the impact of GINA on health care providers?
- There are few cases of genetic discrimination so far, but it may happen more in the future as technology and genetic applications to health advance. People already commonly cite genetic discrimination as a reason that they will not participate in scientific research. Without protective legislation, this may also have an increasing effect on patients and their willingness to have genetic testing.
- GINA's aim is not to curtail the insurance companies, but rather to curtail fears of the public. If the bill is passed, health care providers will need to allay the fears of the public regarding genetic discrimination to assure them that it is now safer to participate in scientific research as well as have genetic testing.
What is the effect of concern about genetic discrimination in health care and employment on Genetic Counseling?
- There is not much of an impact in the prenatal setting, but definitely in the adult medicine setting. Passage of the bill would allow Genetic Counselors to reassure their patients about genetic discrimination.
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.
- This information can be best used to convey risk reduction information, rather than predictive information. People's behaviors may change based on this information, and we may be able to tailor this information for families/individuals at some point in the future.
- If prostate cancer genes do indeed have some significant effects together - could you imagine doing a genetic test as a precursor to a PSA? Yes, that might be one way it could be used, or perhaps it would prove even more helpful post-PSA. PSA testing is currently very grey...could this new information help change that? Yes.
- Many of the pathways that GWAS points us to will become targets for drug design.
- Physicians are action oriented; therefore, it is important for educators/speakers to share examples that have actual results. We are still on the hunt for effective examples, since this research currently has few practical applications yet.
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.
Activities regarding genetics/genomics at the NCCPA have taken place in the following three areas since the March meeting:
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.
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.
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).
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.
Poster presented at NCHPEG regarding building a model curriculum for family medicine residency education.
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.
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:
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?
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.
Last Reviewed: February 26, 2012