>> Muin Khoury: Hello everyone.
I'm Muin Khoury, Director of the Office
of Public Health Genomics,
at the Centers for Disease Control and Prevention.
I'm truly delighted today to speak with you
about the integration of genetics and genomics
into pediatric primary care.
In the next decade, we'll have increasing opportunities
for such integration.
This will require closer partnerships
between clinical medicine and public health.
Just a decade ago since the completion
of the Human Genome Project, breathtaking advances continue
to occur in genetics, genomics,
and the whole slew of "omic" fields.
Now why are these advances relevant
to pediatric primary care today and in the near future,
and how will these advances impact pediatric practice?
First, genetic factors play a role in almost all diseases
and conditions of public health significance;
from traditional genetic diseases like cystic fibrosis
and sickle cell disease to common complex conditions
such as birth defects, diabetes, as well as susceptibility
to environment exposures, infectious agents,
as well as response to common pediatric medications.
Second, there are currently over 8,000 genetic tests for more
than 3,000 conditions involving 6,000 or more genes
that are included in the NIH Genetic Testing Registry.
Most of these tests are for diseases with onset
in infants and children.
Furthermore, the advent
of massively parallel next generation sequencing is
facilitating analysis of multiple genes
and now it's being used to sequence coding regions
of the genome for clinical testing
of suspected genetic diseases.
Third, almost all the approximately 4 million infants
born in the United States each year participate
in state-based public health run newborn screening programs.
These programs detect more than 10,000 babies with 30
or more genetic and other conditions
that require immediate interventions,
long-term follow-up, family counseling, and social services.
In addition, in the next decade we'll also be exploring the
integration of next-generation sequencing and newborn screening
to supplement existing biochemical
and other approaches to screening.
Fourth, more than 50 percent
of the population has a family history of one
or more close relatives with diseases
of public health significance such as cancer,
diabetes, and heart disease.
Family health history remains the most accessible genomic tool
and reflects shared genetic and environmental factors
that may increase risk for a wide variety of diseases.
Family health history informs care
in the pediatric setting and throughout life.
Finally, as clinical practice becomes more genomically
enabled,
an informed pediatrics workforce will play a crucial role
in using this information in risk assessment,
health promotion, and disease prevention both
for genetic diseases, and complex diseases
for genetically informed drug prescription as well
as referrals to medical genetics and other specialties.
With a tremendous amount of new information generated
by these new technologies,
the primary care pediatrician will be at the forefront
of education and communication with patients and families
in involving them in shared decision making about return
and management of genomic results.
In addition to genomics, other "omic" sciences
such as metabolomics, transcriptomics, proteomics
and others are expected to mature in the next decade
and lead to valuable information and practice.
Advances in pathogen genomics, bioinformatics,
and unraveling the microbiome will lead to better approaches
in detection and control of infectious diseases
in individual patients as well
as community outbreaks.
Progress in epigenetics promises to provide important tools
for evaluating the interaction between the human genome
and environmental factors across the lifespan.
Such interactions can shape early life influences
and the occurrence of later onset diseases
such as cancer and heart disease.
Primary care practitioners need to be aware of these new areas
of genomic sciences, even though only a few clinical
applications are currently available.
Last but not least, changes in policies
and infrastructure are needed in order to support the integration
of genomics into pediatric primary care medicine.
A public health healthcare collaboration will support
such integration.
As we move forward, there will be significant challenges
to an already challenged healthcare system.
While genomic medicine is expected to provide targeted
and personalized approaches to pediatric care,
it may also increase healthcare costs and utilizations
and potentially lead to unnecessary procedures
and interventions with unknown benefits and potential harms
to patients, communities, and the health systems.
How can then we evaluate the balance of benefits and harms
of these emerging genomic technologies
in improving health outcomes for individuals and populations?
How can we ensure that the promise
of genomic medicine gets realized equitably
and doesn't lead to widening health disparities
in our population?
At the recent Genomics and Health Disparities Conference,
several speakers showed that many adult
evidence-based genomic applications
that can save lives today, have not implemented optimally
across the U.S. population.
There are remarkable disparities by race, income, and location.
A collaborative infrastructure in the areas of research,
policy, and implementation can move us further in the direction
of fulfilling the promise of genomics in improving health.
This is the main pursuit of the relatively new field
of public health genomics which is concerned with the effective
and responsible translation of genome-based knowledge
to improve population health.
The necessary infrastructure can be informed
by the current newborn screening system and will be needed
to accomplish several goals.
First, to assess the contribution of genomics
and other new markers to health and health disparities
in a larger social and environmental context.
Second, to evaluate the benefits and harms
of these promising new technologies for the potential
to improve health and healthcare.
Third, to utilize evidence to inform development of policies,
programs, communication, and educational strategies
for integrating genomics into practice.
Fourth, to measure population health impact
of new technologies.
We truly live in an exciting time
of great scientific discoveries and big data.
The leading edge
of next-generation sequencing has already reached
clinical practice.
A decade ago during an Institute of Medicine Workshop,
exploring the intersection of genomics and public health,
Dr. Bill Foege, a prominent public health leader stated
and I quote, "The challenge to public health genomics is
to overcome inequitable allocation of benefits.
The tragedy that would befall us if we made the promise
of genetics only for those who could afford it
and not for all of society."
CDC is committed to translating genomics
into population health benefits for all.
Through its science and programs, CDC will be working
with many partners to advance integration of genomics
into clinical practice across the lifespan.
Thank you.