Making Personalized Health Care Even More Personalized: Insights From Activities of the IOM Genomics Roundtable

Sean P. David; Samuel G. Johnson; Adam C. Berger; W. Gregory Feero; Sharon F. Terry; Larry A. Green; Robert L. Phillips; Geoffrey S. Ginsburg

doi:10.1370/afm.1772

Published eLetters

If you would like to comment on this article, click on Submit a Response to This article, below. We welcome your input.

Submit a Response to This Article

Compose eLetter

Title *

Author Information

Contributors
First Name and Middle Initial * First or given name, e.g. 'Peter'. Last Name * Your last, or family, name, e.g. 'MacMoody'. Email Address * Your email address, e.g. higgs-boson@gmail.com Occupation * Your role and/or occupation, e.g. 'Orthopedic Surgeon'. Affiliation * Your organization or institution (if applicable), e.g. 'Royal Free Hospital'.

Statement of Competing Interests

Competing interests? *

Yes

Please describe the competing interests

CAPTCHA

This question is for testing whether or not you are a human visitor and to prevent automated spam submissions.

What code is in the image? *

Enter the characters shown in the image.

Vertical Tabs

Jump to comment:

Author response Re:Genomics Integration in Primary Care - Still Hard Work Ahead
Sean P David, MD, DPhil

Published on: 06 August 2015
Making the transition of genetics knowledge possible: personalized genomics in everyday health care!
Elisa J. Houwink

Published on: 04 August 2015
Genomics Integration in Primary Care - Still Hard Work Ahead
Robert A. Saul

Published on: 30 July 2015

Published on: (6 August 2015)
Page navigation anchor for Author response Re:Genomics Integration in Primary Care - Still Hard Work Ahead
Author response Re:Genomics Integration in Primary Care - Still Hard Work Ahead
Sean P David, MD, DPhil, Associate Professor
Other Contributors:
We appreciate the comments of Drs. Saul and Tarini and applaud the work of the Genetics in Primary Care Institute of the American Academy of Pediatrics in developing core competencies for genomics in primary care and the feasibility research under way by these investigators. The Genetic Literacy in Primary Care Colloquium addressed many important gaps in genetic literacy and offered a useful blueprint for closing these...
Show More

We appreciate the comments of Drs. Saul and Tarini and applaud the work of the Genetics in Primary Care Institute of the American Academy of Pediatrics in developing core competencies for genomics in primary care and the feasibility research under way by these investigators. The Genetic Literacy in Primary Care Colloquium addressed many important gaps in genetic literacy and offered a useful blueprint for closing these gaps through defining scope of practice, identifying and developing tools to enable integration of genomics with primary care and developing an evidence base to support such integration. Collaboration across primary care fields (family medicine, general internal medicine and pediatrics) and with genetics professionals and the research community will be integral to effective integration, such as that promulgated by the Inter-Society Coordinating Committee for Practitioner Education in Genomics (ISCC) of the National Human Genome Research Institute.
Drs. Houwink, Dinant and Solie presented some lessons learned from the successful Dutch clinical implementation enterprise of genomics in primary care, including the limited knowledge gained from SNPs along, the importance of complex environmental interactions, societal determinants and the interdependence of scholars in this field spanning populations, continents and health systems. We are all, indeed, in this together. The more collaboration, the better, in our dynamic, learning healthcare systems facing daunting challenges to improve population health. We hope this overview stimulate more cross-disciplinary primary care discussion about the way forward into the future of personalized medicine in a primary care home.
Competing interests: None declared
Show Less

Competing Interests: None declared.
Published on: (4 August 2015)
Page navigation anchor for Making the transition of genetics knowledge possible: personalized genomics in everyday health care!
Making the transition of genetics knowledge possible: personalized genomics in everyday health care!
Elisa J. Houwink, GP, Postdoc researcher
Other Contributors:
We agree personalized health care, which in a way has been provided by general practitioners (GPs) in many countries for decades now, should be made even more personalized by actually applying genomic medicine. In the Netherlands, a strong and nationwide Primary Care system with the GP as a central gatekeeper for secondary care has been in place for over 30 years. 95% of all Dutch inhabitants are registered with a GP and...
Show More

We agree personalized health care, which in a way has been provided by general practitioners (GPs) in many countries for decades now, should be made even more personalized by actually applying genomic medicine. In the Netherlands, a strong and nationwide Primary Care system with the GP as a central gatekeeper for secondary care has been in place for over 30 years. 95% of all Dutch inhabitants are registered with a GP and receive "patient-centered, comprehensive, continuous and coordinated care" (David et al, Table 1). As such, Primary Care indeed seems to have great potential for integrating and delivering genomic medicine.
However, as we pointed out in our article published in 2013, titled "Proposed roadmap to stepwise integration of genetics in family medicine and clinical research", too little available genetics knowledge is actually being applied in daily clinical care, even in the Netherlands, where circumstances seem to be ideal. This does not match with the "explosion" of genetic research that we have seen.
We fully agree that it is about time to focus our energy on the transition of genetic knowledge to everyday clinical practice and make patients benefit from all the money, time and energy that has been spent on research so far. This is no easy task and we welcome the roadmap that colleague David has written. David et al also provides an overview of challenges to overcome (figure 1) and we recognize most issues. We would like to add that one of the reasons that genetics has not been integrated more already is the fact that effect sizes of for instance SNP polymorphisms (small genetic variations) are so small. Much smaller than known risk factors such as smoking or being obese. Most likely answers will be found in the combination of genetic risk factors, environmental and lifestyle factors. Which is very difficult to research, speaking of evidence gaps! Only crossing boundaries and investing in coordinated interdisciplinary research projects will provide opportunities to succeed.
Furthermore, we feel that the field of clinical genetics should be subject of transition not only to primary care but also to specialized care in the coming years, with the exception of rare genetic diseases. Thus, all statements proposed in Figure 1 in the article should also be applied in secondary/specialized care to make clinical implementation of genomic medicine in daily medical care possible. This adds to our previous statement; "The roadmap for clinical implementation of genomic medicine should be enriched by an effective collaborative effort to bring patients personalized health care." This way continuous care can be given where genetics can play one of the connecting roles between primary care (focusing on the person, first contact and comprehensive problem) and secondary care (rather focusing on disease, specialized service after directed referral for specific problem). Let's cross oceans and not stay on our islands of expertise, but rather sail towards improved health and quality of life with better integrated genetic care and in the end lower costs.
Houwink EJ, Sollie AW, Numans ME, Cornel MC. Proposed roadmap to stepwise integration of genetics in family medicine and clinical research. Clinical and Translational Medicine. 2013;2:5. doi:10.1186/2001-1326-2-5.
Competing interests: None declared
Show Less

Competing Interests: None declared.
Published on: (30 July 2015)
Page navigation anchor for Genomics Integration in Primary Care - Still Hard Work Ahead
Genomics Integration in Primary Care - Still Hard Work Ahead
Robert A. Saul, Medical Director, General Pediatrics
Other Contributors:
Dear Editor:
We read with enthusiasm the report by David et al. about the Institute of Medicine (IOM) Roundtable on Translating Genomic-Based Research for Health.[1] Expanding upon ongoing efforts, the report articulates specific steps needed for the successful integration of genomic medicine into primary care medicine. In 2012, the American Academy of Pediatrics hosted a colloquium and created a similar "bl...
Show More

Dear Editor:
We read with enthusiasm the report by David et al. about the Institute of Medicine (IOM) Roundtable on Translating Genomic-Based Research for Health.[1] Expanding upon ongoing efforts, the report articulates specific steps needed for the successful integration of genomic medicine into primary care medicine. In 2012, the American Academy of Pediatrics hosted a colloquium and created a similar "blueprint" for action.[2] The main issues identified were the need to demonstrate relevance, to provide primary care providers' (PCP) the proper tools, and to promote educational efforts across all levels from college through to maintenance of certification.
As project co-directors of the Genetics in Primary Care Institute of the American Academy of Pediatrics (funded by the Health Resources and Service Administration [HRSA] from 2011 to 2014), we collaborated on a quality improvement project with talented colleagues who shared the goal of integrating genetics into primary care medicine by increasing PCPs' knowledge and skills in providing genetic-based services.[3] David et al. state that "re-engineering the health care system to integrate genomic medicine is an ambitious task" and will require iterative processes to demonstrate improvement, efficiency and value. These efforts must be grounded in the clinical implementation science discussed at great length in this report. We found such practical "on the ground" efforts to be challenging and eye-opening.
Our experience with such a quality improvement effort (publication submitted) has provided valuable lessons about what is necessary to achieve real tangible changes. Enhancing awareness and integration requires practice champions (provider and staff) and demand a substantial amount of work. Long-term changes can only be achieved with a constant iterative process that necessitates sustained energy. While the patient-centered medical home (PCMH) is the logical vehicle for this implementation, PCMHs can vary widely based on their location (e.g., medical center, urban, rural) and other local characteristics that merit consideration.
In short, the genetic/genomic revolution will stay on the outside of primary care without major efforts demonstrating its practical use. The IOM Roundtable report provides further documentation of the path ahead-- but the path is not for the weary or faint of heart.
1. David SP, Johnson SG, Berger AC, Feero WG, Terry SF, Green LA, Phillips Jr RL, Ginsburg GS. Making personalized health care even more personalized: insights from activities of the IOM Genomics Roundtable. Ann Fam Med. 2015;13(4):373-380.
2. Saul RA. Genetic and genomic literacy in pediatric primary care. Pediatrics. 2013;132(Suppl_3):S198-S202.
3. http://www.geneticsinprimarycare.org (accessed July 25, 2015)
Robert A. Saul, MD, Medical Director, General Pediatrics. Children's Hospital, Greenville Health System, Greenville, SC. rsaul@ghs.org
Beth Tarini, MD, MS, Assistant Professor of Pediatrics. Child Health Evaluation & Research (CHEAR) Unit, University of Michigan. btarini@umich.edu
Competing interests: None declared
Show Less

Competing Interests: None declared.