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Commonly asked questions about epigenetics

​General Questions

Q. What is “epigenetics”?
A. “Epigenetics” is the study of changes in gene expression due to modifications of DNA and associated proteins without alteration of the DNA sequence.

Q. Why is epigenetics important in child health?
A. Epigenetics is important because “the genome remembers.” Genes that have been turned on or off early in life may not work properly when needed later in life.

​Q. What common conditions frequently encountered by primary care physicians have emerging evidence to support an epigenetic component? 
A. Conditions that you see every single day can have epigenetic components. Examples include asthma, obesity, developmental delay, attention-deficit/hyperactivity disorder (ADHD), type 2 diabetes mellitus, and mental and behavioral health problems.

Q. How do epigenetic factors modify the expression of the genome?
A. Epigenetic factors consist of chemical changes in the DNA and the associated proteins that regulate the expression of genes. Epigenetic changes occur naturally as cells differentiate, but they can also occur as a consequence of certain environmental exposures. These chemical changes can persist from one cell division to the next, so environmentally acquired alterations of gene expression may have long-lasting effects. Also, epigenetic changes may alter the function of complex networks of genes, either by directly changing the expression of a group of genes or by altering the expression of genes that in turn affect the expression of others.

Q. Can epigenetic changes be passed from generation to generation within a family?
A. While epigenetic changes have their most profound effect on the individual, there is some evidence that suggests that some of these changes may persist from generation to generation.​

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Family, Social, and Past Medical History

Q. How are family, social, and past medical history important to understanding epigenetic impacts?
A. Epigenetics exists at the intersection of the family history, the social history, and the environmental history. The information gained from the histories may identify epigenetic factors that potentially can be ameliorated to improve the health outcome of children.

Q. Do prenatal and perinatal events impact epigenetic outcomes?
A. Yes, epigenetic changes begin just after fertilization. Changes that occur during the prenatal and perinatal periods may therefore have effects that last throughout life. A thorough awareness of the prenatal and perinatal history can help guide evaluation and management.


Q. How can epigenetic information help formulate a diagnosis and direct intervention?
A. The applicability of epigenetics to primary care depends on clinicians’ ability to assimilate appropriate information (family history, social history, environmental history, physical examination, laboratory testing) to aid in diagnosis. Precise diagnosis allows the provision of appropriate care, anticipatory guidance, and reproductive counseling.

Q. Are there epigenetic laboratory tests available today?
A. At this time, epigenetic screening tests are not available.  However, selective genetic testing may be appropriate in collaboration with a geneticist. 


Q. Are there currently epigenetic therapies available?
A. There is currently no evidence to support the effectiveness of any epigenetic-specific therapies.  There are, however, many interventions that may minimize adverse epigenetic impacts and decrease adverse childhood experiences (ACEs).  Examples of interventions include smoking cessation, dietary counseling, avoidance of environmental hazards, reduction of toxic stress, psycho-social counseling, and educational enhancements.  Though these interventions have long been recognized as valuable, epigenetic understanding solidifies the biological basis for these activities and crystallizes the need for action.


Q. What should pediatricians tell families who come in with direct-to-consumer genetic testing results?
A. The American College of Medical Genetics 2008 “Direct-to-Consumer Genetic Testing” policy statement provides valuable information on this topic.

Q. What guidance can be provided to families who inquire about environmental exposures during pregnancy and their effects on lifelong health?
A. The science is still young, but it is clear that environmental exposures affect how our genes work. The good news is that healthy environments help our genes to work more effectively. Also, as we learn more about epigenetics, we realize the importance of healthy environments is life-long. Even in pregnancy, a healthy environment can be important and might even prevent diseases like obesity and hypertension that our children might experience 50, 60, or more years after they are born.  This means it is never too early to practice a healthy life style. 


Q. What can I do to make a difference?
A. Public health changes make a difference in the lives of children.

Epigenetics is a genomic factor to be recognized and considered from the standpoints of personal health and public health. Although the ultimate impact of epigenetics in medicine may be unclear, and how behavior can be adjusted to diminish the likelihood of harm is uncertain, PCPs should remain mindful of the fact that the actions and behaviors of one generation can affect subsequent generations. It is naïve to think that this influence will only be positive. For example, the obesity epidemic affecting today’s children may be detrimental to future generations. Will communities burdened by a disproportionate incidence of obesity require generations to recover? What effects will the field of epigenetics have on other health disparities in society? What is apparent is that epigenetic factors affect the structure and future of the communities themselves.

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