Integrating Genetics in Primary Care—Why Does
1. Recognize how advances in genetics and genomics can
contribute to pediatric primary care.
2. Describe the importance of care
coordination within the medical home for children with genetic
Tim Geleske, MD, FAAP
Bruce Korf, MD, PhD, FAAP
Building an Accurate Family History,
Constructing a Pedigree—An Overview for Primary Care Objectives
State the importance of the family history in the primary care setting for
prevention, diagnosis, and management.
2. Demonstrate how to properly collect
and interpret a meaningful family history using the pedigree and other
3. Review the importance of engaging patients and families as active
partners in the prevention and/or treatment of their condition.
Emily Chen, MD, PhD, FAAP, FACMG
Bob Saul, MD, FAAP, FACMG
Ordering the Right Tests—Genetics in Primary
1. Describe different types of genetic testing and
review advances in testing technology.
2. Demonstrate the role of genetic
testing in primary care.
3. Discuss ethical principles involved in genetic
testing in pediatrics.
Leah Burke, MD, FACMG, FAAP
Genetics Evaluation, Referrals, and More—What
To Do Next Objectives
1. Explain what families and patients can
expect from a medical genetics consultation.
2. Describe the role of primary
care providers in medical genetics consultations including,
a) When the
medical home should consider requesting genetics consultation; and
How the medical home can initiate and facilitate the evaluation process.
Discuss the value of appropriate medical genetics consultation, care
coordination and co-management and benefits for patients, families and the
Carol Greene, MD, FAAP
John Moeschler, MD, FAAP
Myths of Primary Care Providers and
Patients/Families Regarding Genetics—Setting the Record Straight
1. Identify and clarify commonly held myths about the use of
genetics in primary care practice.
2. Illustrate examples of how to improve
genetic services delivered by primary care physicians.
Wendy Chung, MD, PhD
Beth Tarini, MD, MS, FAAP
Heard About Genetic Counseling? What Does it
Mean for You, Patients and Families? Objectives
1. Define genetic
2. Describe the role of a genetic counselor.
3. List three
ways patients and families can benefit from meeting with a genetic
4. Find a genetic counselor in your area.
Karin Dent, MS, LCGC
Genetics and Coding: What the Primary Care
Provider Needs to Know Objectives
1. Describe the purpose of
the ICD coding system.
2. Discuss the gaps within the current coding systems
regarding genetics in primary care settings.
3. Identify appropriate courses
of action related to accurate coding of genetic services.
Marc Williams, MD, FACMG, FAAP
Top 10 Genetics Resources for Pediatric Primary
Care Providers Objectives
1. Access and utilize online genetic
resources to create a differential diagnosis for patients presenting with
features of a genetic disorder.
2. Access and utilize online genetic
resources developed for professionals about specific genetic conditions to
improve patient care.
3. Recommend family support and online genetic
resources for families who have a child with a specific genetic condition.
Beth Pletcher, MD, FAAP, FACMG
Genetics Across the Lifespan—Putting It All
1. Understand how genetics, epigenetics, and
environment affect human development over the life cycle.
2. Appreciate the
life stages that may predispose to genetic and epigenetic influences on health
3. Recognize that some specific pediatric disorders and
syndromes are due to errors in epigenetic regulation at imprinted genes.
Melissa Parisi, MD, PhD, FAAP, FACMG
Epigenetics—What Your Patients are Asking, What
You Need to Know Objectives
1. State the scientific basis of
epigenetics and its relation to environmental health factors and
2. Review relevant historical examples of epigenetics and
their potential relevance in today's health care.
3. Demonstrate the clinical
relevance of epigenetics in primary health care and its applicability to the
prevention, diagnosis, and treatment of health and disease for the primary care
Bob Saul, MD, FAAP, FACMG
Robert Wright, MD, MPH, FAAP