natalie mikat-stevens, mph manager, genetics in primary care institute new england genetics...
TRANSCRIPT
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Natalie Mikat-Stevens, MPHManager, Genetics in Primary Care
Institute
New England Genetics Collaborative Meeting
April 11, 2014
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Acknowledgments• The Genetics in Primary Care Institute
(GPCI) is a three-year cooperative agreement between the American Academy of Pediatrics (AAP) and the Health Resources & Services Administration (HRSA)/Maternal & Child Health Bureau (MCHB), Genetic Services Branch
• June 1, 2011—May 31, 2014• Grant No. UC7MC21713
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Vision: To improve primary care
providers’ knowledge and skills in the provision of genetic
medicine
Genetics in Primary Care Institute
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Impetus for the GPCI• Secretary’s Advisory Committee on
Heritable Disorders in Newborns and Children (SACHDNC) - recommendations in 2009 workshop provided blueprint for GPCI
• Documented gaps exist in PCPs’ knowledge, attitudes, and practice
• Advances in genetics and genomics continue, prompting more demand, while workforce shortages among genetic professionals grow
• Strategies and tools are needed to improve PCPs’ role in providing genetic services
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Model for Change
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Goals of the GPCI
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Reported Barriers to Integrating Genetics in Primary Care• Knowledge/Skills
• Lack of updated knowledge on genetics, risk assessment, non-directive counseling, access to information/resources
• Ethical, Legal, and Social Implications• Patient anxiety, insurance and social discrimination,
privacy and confidentiality, moral concerns regarding genomic applications for society
• Healthcare Systems• “Genetics is for specialists”, the role of the PCP is
unclear, lack of time to integrate genetics into the clinical workflow
• Evidence• Lack of clear, accessible guidelines for risk assessment
and genetic testing, potential for ambiguous results
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Roles of the PCP• Evaluate through screening and
surveillance• Educate patients and their
families• Explain the results• Make appropriate referrals• Coordinate care with a
subspecialist• Counsel patients and families• Provide long-term follow-up
and care
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QUALITY IMPROVEMENT PROJECT
Integrating Genetics into Primary Care Practice
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Objective and GoalsTest tools and strategies related to the integration of genetics into pediatric primary care
Project Goals1. Collect, document, and discuss family history
information as part of the health supervision visit for all patients aged 0-21
2. Improve the delivery of care for pediatric patients with defined genetic conditions, using a patient registry and co-managing care with genetic professionals
3. Develop policies and improve office systems to meet the first two goals of the project
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Project Participation• 13 teams in 11 states serving 130,000 pediatric patients
annually• Practice teams (3 people total) include a lead physician,
1-2 other clinicians, nurse or assistant staff person• Participated in 6 months of data collection regarding
project goalsPractice demographics:•All use an EHR•One family physician •Diverse range of practice type, geographic setting, and patient population
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QIP Timeline and Overview
Jan – March 2013: Prework and Learning Session 1April – Sept 2013: Action PeriodNov 2013: Learning Session 2Spring 2014: Post-project evaluation (measure sustainability of changes)
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Genetic Mentorship ProgramGoal: To increase partnerships between PCP and genetic professionals at the local / regional level
Format:•Who: A geneticist or genetic counselor paired with each practice from their region•What: Meet monthly via phone, email, or in-person •Purpose: Share information and resources, discuss patient cases, facilitate relationships
OUTCOMES•Knowledge expanded – know when to utilize services•Comfort in contacting genetics with a referral that they are considering•Better understanding to the role of a genetic counselor•Build relationships between PCP and genetics
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Case Example: Mentorship ProgramWho: •PCP - Nassim and Associates (Indiana) •Genetic Counselor - Cecilia Rajakaruna (Louisville, Kentucky)Goals:1.Educating allied health staff on genetic conditions and FH2.Tracking patients with genetic d/o3.Integrating FH into the EHR4.Working on care plan / creating care plans for patients5.Developing policies and processes for genetic referrals6.Connecting with local geneticists and allied health professionals
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Size of Practice Registries for Children with Genetic Conditions
In January 2013:•< 50 patients = 4 practices• 51-150 patients = 6 practices•> 1000 patients = 3 practicesIn September 2013:•< 50 patients = 3 practices•51-150 patients = 5 practices•151-999 patients = 4 practices•> 1500 patients = 1 practice
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Identifying Patients with Suspected Genetic ConditionsSteps Towards Improving Patient Care1.Recognize Clinical Red Flags2.Identify and Follow-Up with Patients Identified at Risk3.Talk to Parents about an At-Risk Family Health History or Genetic Referral4.Develop Relationships with Genetic Professionals5.Review Indications for Possible Referral for a Genetic Evaluation6.Order Appropriate Genetic Tests
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Providing Appropriate Care for Patients with Genetic ConditionsSteps Towards Improving Patient Care1.Implement Systems to Improve Genetic Services 2.Create a Patient Registry3.Follow the Health Supervision Guidelines4.Provide Family-Centered Care
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Coordinating Care for Patients with Genetic ConditionsSteps Towards Improving Patient Care1.Improve Processes to Co-Manage Care with Specialists2.Obtain Current Emergency Plans (if applicable)3.Obtain Current Emergency Letters (if applicable)4.Plan for Transitions to Adult Care5.Discuss Palliative Care
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Steps Towards Implementation1. Identify patients with diagnosed genetic
conditions; create a patient registry2. Create aim statements / goals to improve
procedures 3. Review patient registry data, re-evaluate
aims
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Results• Most teams used Change Package tools more than once
per month and rated nearly all tools as “helpful”• Pre-post survey demonstrates positive change in
knowledge, practice-level policies, behaviors, and attitudes
• The most significant change noted from the practices was a change in attitude from the first to the second learning collaborative• Having an appreciation for the value to “think genetics” is
the #1 motivator that clinicians need to provide the best care possible for their patients
• The majority of practices modified their own version of family history tools through continuous feedback
• Some collect information through a patient portal pre-visit, some were able to modify their EHR screens and prompts
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Policies and Procedures for Genetics Patients
Practice has a standard process (written or not written) for…
Pre PostΔ from
pre
Tracking genetic referrals made 38% 85% 47%
Identifying patients with a defined genetic condition 23% 77% 54%
Tracking children with a defined genetic condition 23% 77% 54%
Identifying genetic patients who are behind schedule for preventative services 23% 69% 46%
Contacting genetic patients who are behind schedule for preventative services 38% 69% 31%
Transition to adult care discussion with genetics patients by age 12 15% 62% 47%
Co-managing care genetics patients 8% 31% 23%
Obtaining emergency plans from specialists 15% 31% 16%
Most practices established processes or written protocols around tracking and identification of patients with a defined genetic condition
Fewer practices established processes or written protocols around emergency plans and co-managing care
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Managing a Genetic Patient Registry
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Offering Genetic Services
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Following Health Supervision Guidelines
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Documented Plan of Care
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Emergency Care Plans, Letters
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Transitions to Adult Care
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Palliative Care Discussions
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Improving Care Coordination
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Case Example – Re-ordering Genetic Tests• I saw a 16 year old girl I have followed since infancy
with PDD, anxiety, low back pain from lumbar lordosis and spondylolisthesis, and an absent uterus (Mullerian dysgenesis). We talked about the fact that microarray technology had improved since she was last tested about 6 years ago, so we ordered another, and found she has a 16 p11.2 deletion. This syndrome explains her constellation of problems; her mother is very grateful to have a definitive diagnosis and be able to learn more about patients with this syndrome. She has been seen in follow up by genetics to discuss this syndrome, and been referred to cardiology because of this diagnosis.
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Knowledge
All practices indicate that the lead physician has knowledge regarding steps and importance of family history
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KnowledgePre vs. Post Comparison
All knowledge areas assessed in the pre-survey saw at least some improvement in the post-survey, with the importance of FH, role in providing genetic services, and communicating genetic info measures seeing the highest gains.
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Barriers to Implementation
Barrier% selecting 3 or 4
(significant barrier)
Average Rating
Overall Project
Time it takes to develop new policies and procedures
69.2% 3.0
Time it takes to implement new policies and procedures
69.2% 2.9
Time it takes to add these components to the health supervision visit
46.2% 2.4
Family History
Collection
Limitations of the family history tools/screens in EHR
69.2% 2.7
Time required to enter the family history information into the EHR
46.2% 2.5
Providing Care for Patients
with Genetic Conditions
Difficulty in managing patient registry 69.2% 2.7
Difficulty in establishing a recall system for patients
46.2% 2.2
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Initial Lessons Learned• Targeted strategies to improve the primary care of
children with genetic conditions can be successful, but require a multifaceted approach to improving healthcare processes and systems.
• Practice suggestions for improving the management of patients with genetic conditions included:• engaging information technology in patient registry
functions;• establishing procedures and policies for patient
management; and• building relationships with local genetic
professionals.
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Next Steps• Manuscripts
1. Implementing Family History Tools in Pediatric Primary Care (spring 2014)
2. Integrating Genetic Services into Pediatric Primary Care: Findings from A National Quality Improvement Initiative (summer 2014)
• Tools• A Toolkit to Improve Care for Pediatric Patients with
Genetic Conditions (May 2014)• Contains a plethora of practice tools and resources
• An electronic pediatric family history and risk assessment tool (available for free download at www.geneticsinprimarycare.org)
• Online CME courses – AAP PediaLink (June 2014) and NAPNAP (May 2014)
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ADDITIONAL RESOURCES: TECHNICAL ASSISTANCE AND EDUCATION
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GeneticsinPrimaryCare.orgThe clearinghouse
for education and tools regarding genetics in primary care.
Informational destinations include:What is genetics?Resources for Your PracticeProvider EducationExpert Video TestimonialsAnd More!
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Genetic Literacy in Primary Care Colloquium Purpose•Thought leaders convened October 2-3, 2012 at the AAP to review key elements of genetic literacy in pediatric primary care and 6 manuscripts
Consensus Statement •Overarching recommendations for policy, education, and research were also developed:
1. Define how pediatric PCPs should use genetics and genomics in practice
2. Define, develop, and provide the tools and resources that are needed to integrate genetics and genomics into primary care
3. Integrate genetics and genomics into primary care training at all levels
4. Provide an evidence base for optimal integration of genetics and genomics into primary care
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Genetic Literacy in Primary Care Colloquium Genetic and Genomic Literacy in Pediatric Primary Care
Robert A. Saul, MD, FACMG, FAAP Family History in Primary Care Pediatrics
Beth Tarini, MD, MS, FAAP and Joe McInerney, MA, MS Whole-Exome Sequencing and Genomics
Wayne W. Grody, MD, PhD, FCAP, FACMG, Barry H. Thompson, MD, MS, FAAP, FACMG, and Louanne Hudgins, MD, FAAP, FACMGEpigenetics and Primary Care
Robert Wright, MD, MPH and Robert A. Saul, MD, FACMG, FAAPGenetic Literacy and Competency
Celia Kaye, MD, PhD, FAAP, FACMG, and Bruce Korf, MD, PhD, FAAP, FACMGPrimary Care and Genetics and Genomics
Joan Scott, MS, CGC, and Tracy Trotter, MD, FAAP
Published in Pediatrics 12/1/13
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Time Out for Genetics Webinar Series (2012)
Integrating Genetics in Primary Care—Why Does it Matter?Building an Accurate Family History, Constructing a Pedigree—An Overview for Primary Care Ordering the Right Tests—Genetics in Primary Care Genetics Evaluation, Referrals, and More—What To Do Next Myths of Primary Care Providers and Patients/Families Regarding Genetics—Setting the Record Straight Heard About Genetic Counseling? What Does it Mean for You, Patients and Families? Genetics and Coding: What the Primary Care Provider Needs to Know Top 10 Genetics Resources for Pediatric Primary Care Providers Genetics Across the Lifespan—Putting It All Together Epigenetics—What Your Patients are Asking, What You Need to Know
www.geneticsinprimarycare.org/Provider Education/
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Integrating Genetics in Your Practice Webinar Series (2013 - 2014)
Family History in Primary Care
Overview of Genetic Testing and Screening
Genetic Red Flags in Well-Checks
Genetic Testing in Primary Care
Genetic Counseling in Primary Care
Co-Management and Transitions for Patients with Genetic Conditions
www.geneticsinprimarycare.org/Provider Education/
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PediaLink
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Related AAP Activities• Newborn Screening
EQIPP Course• Medical Genetics
and Pediatric Practice: A Handbook
• PediaGene: AAP Genetics Screening Guide – Mobile Device Application
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www.geneticsinprimarycare.org
Questions?
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Contact Us
GPCI Medical Directors:•Beth Tarini: [email protected] •Bob Saul: [email protected]
AAP Staff:•Michelle Esquivel: [email protected]•Natalie Mikat-Stevens: [email protected]•Jennie Vose: [email protected]
www.geneticsinprimarycare.org