- Email: [email protected]
Editorial for the Genetics Issue
Journal of Pediatric Nursing (2016) 31, 1–2
EDITORIAL Editorial for the Genetics Issue IT HAS BEEN over five years since JPN featured a specific issue related to genetics and genomics. I know because I wrote one of those earlier articles, calling attention to the children in our care who were growing up at the intersection of the information age and genomic era. In the current issue, I am pleased to highlight new achievements, challenges, and implications for pediatric nurses who are now practicing at the intersection of precision medicine and the post-genomic era. October 1, 2015 marked the 25th anniversary of the launch of the Human Genome Project (HGP). The first draft of the human genome was published in February 2001 and the full sequence was completed and published in April 2003. It continues to be one of the great feats of exploration in history, most notable for its inward rather an outward voyage of discovery. At the time, Francis Collins, then director of National Human Genome Research Institute (NHGRI) was quoted as saying that the genome could be described as a book with multiple uses. First, it could be a history book because it tells the story of the journey of our species through time. It could also be thought of as a shop manual containing the detailed blueprint for building every human cell. Finally, it could be a workbook, providing new insights and powers to treat, prevent and cure disease. Each of these uses underscores and informs the work of pediatric nurses. Genetic and genomic science and technologies have expanded to the degree that their understanding is critical to the delivery of effective, responsive health care. Today, pediatric nurses should be thinking about the role of genetics at every http://dx.doi.org/10.1016/j.pedn.2015.11.003 0882-5963/© 2016 Elsevier Inc. All rights reserved.
patient/family encounter. In fact, precision medicine implies that our current approach to disease treatment and prevention must take into account individual variability in genes, environment, and lifestyle. A parallel expansion in the number of congenital conditions included in state newborn screenings, as well as the introduction of neonatal screening for hearing and critical congenital heart defects (CCHD), models the positive short- and long-term impact of early diagnosis and treatment of genetic disorders. This issue begins with an article by Dr. Roseanne Butler and colleagues highlighting the importance of understanding genetics when caring for children with congenital heart defects. The article provides a brief review of basic genetics, patterns of inheritance, and an introduction to the emerging field of epigenetics as they relate pediatric cardiac health. They expand on the concept of preconception counseling, introducing the idea of interconception counseling for these families. Also of note is their highlighting of the move from the traditional bench-to-bedside orientation to a more upstream bench-tobassinet approach. This upstream approach is also highlighted in the next article by Drs. Doria Thiele and Cindy Anderson, which introduces an emerging theoretical framework called Developmental Origins of Health and Disease (DOHaD). DOHaD, which is sometimes referred to as “The Barker Hypothesis” after its founder, focuses on the early roots of non-communicable disease, such as heart disease, diabetes, and hypertension. It has three main tenets that explain the mechanisms that lead to adult disease. The three tenets are: plasticity, epigenetic modification, and programming. Using the DOHaD framework encourages pediatric nurses to think beyond the mother–child unit. The mother-
2 child-family-community is viewed as one continuous unit, with multiple layers of exposures that impact health and/or disease now and in the future. Such impact is illustrated through the link between intrauterine growth restriction (IUGR) and adult hypertension. The remaining articles focus on the direct/indirect impact of genetic disease on the child and/or family. Dr. Sharron Close and colleagues share their findings from a mixed methods study exploring the family management challenges for the parents of children with Klinefelter syndrome. Of particular note were the “back stories” for the high stress and low quality of life experienced by these parents. The four overarching themes, In the Dark, Double-edged Sword, Disclosure Dilemma, and Need for a Roadmap, highlight these parents' need for information and support, not only for caring for their children, but also for disclosing the diagnosis. Many of these same issues related to family functioning are reflected in the remaining articles. The article by Dr. Kimberly Wesley and colleagues explores health-related stigma experienced by parents of adolescents diagnosed with sickle cell disease.
Editorial Drs. Sarah Russell and Cynthia McCloskey focus on parent perceptions of care received by children with autism spectrum disorder, and Dr. Brenda Senger and colleagues focus on parental experiences caring for children diagnosed with mitochondrial disease, while Dr. Vitale explore the lived experience of families with a child with Prader–Willi syndrome. Each of these articles highlights the additional burden of responsibility related to genetic disease. These challenges to family functioning are extremely important for pediatric nurses to notice. While we need to “think genetically”, we also need to remember that these are still children and families looking to us for support and guidance on their clearly stressful journeys. Precision medicine directs us to take into account individual variability in genes, environment, and lifestyle, but pediatric nurses must also keep their eyes on the individuals and families living with these disorders. Martha Driessnack PhD, PPCNP-BC Oregon Health & Science University Portland, OR E-mail address: [email protected]
EDITORIAL Editorial for the Genetics Issue IT HAS BEEN over five years since JPN featured a specific issue related to genetics and genomics. I know because I wrote one of those earlier articles, calling attention to the children in our care who were growing up at the intersection of the information age and genomic era. In the current issue, I am pleased to highlight new achievements, challenges, and implications for pediatric nurses who are now practicing at the intersection of precision medicine and the post-genomic era. October 1, 2015 marked the 25th anniversary of the launch of the Human Genome Project (HGP). The first draft of the human genome was published in February 2001 and the full sequence was completed and published in April 2003. It continues to be one of the great feats of exploration in history, most notable for its inward rather an outward voyage of discovery. At the time, Francis Collins, then director of National Human Genome Research Institute (NHGRI) was quoted as saying that the genome could be described as a book with multiple uses. First, it could be a history book because it tells the story of the journey of our species through time. It could also be thought of as a shop manual containing the detailed blueprint for building every human cell. Finally, it could be a workbook, providing new insights and powers to treat, prevent and cure disease. Each of these uses underscores and informs the work of pediatric nurses. Genetic and genomic science and technologies have expanded to the degree that their understanding is critical to the delivery of effective, responsive health care. Today, pediatric nurses should be thinking about the role of genetics at every http://dx.doi.org/10.1016/j.pedn.2015.11.003 0882-5963/© 2016 Elsevier Inc. All rights reserved.
patient/family encounter. In fact, precision medicine implies that our current approach to disease treatment and prevention must take into account individual variability in genes, environment, and lifestyle. A parallel expansion in the number of congenital conditions included in state newborn screenings, as well as the introduction of neonatal screening for hearing and critical congenital heart defects (CCHD), models the positive short- and long-term impact of early diagnosis and treatment of genetic disorders. This issue begins with an article by Dr. Roseanne Butler and colleagues highlighting the importance of understanding genetics when caring for children with congenital heart defects. The article provides a brief review of basic genetics, patterns of inheritance, and an introduction to the emerging field of epigenetics as they relate pediatric cardiac health. They expand on the concept of preconception counseling, introducing the idea of interconception counseling for these families. Also of note is their highlighting of the move from the traditional bench-to-bedside orientation to a more upstream bench-tobassinet approach. This upstream approach is also highlighted in the next article by Drs. Doria Thiele and Cindy Anderson, which introduces an emerging theoretical framework called Developmental Origins of Health and Disease (DOHaD). DOHaD, which is sometimes referred to as “The Barker Hypothesis” after its founder, focuses on the early roots of non-communicable disease, such as heart disease, diabetes, and hypertension. It has three main tenets that explain the mechanisms that lead to adult disease. The three tenets are: plasticity, epigenetic modification, and programming. Using the DOHaD framework encourages pediatric nurses to think beyond the mother–child unit. The mother-
2 child-family-community is viewed as one continuous unit, with multiple layers of exposures that impact health and/or disease now and in the future. Such impact is illustrated through the link between intrauterine growth restriction (IUGR) and adult hypertension. The remaining articles focus on the direct/indirect impact of genetic disease on the child and/or family. Dr. Sharron Close and colleagues share their findings from a mixed methods study exploring the family management challenges for the parents of children with Klinefelter syndrome. Of particular note were the “back stories” for the high stress and low quality of life experienced by these parents. The four overarching themes, In the Dark, Double-edged Sword, Disclosure Dilemma, and Need for a Roadmap, highlight these parents' need for information and support, not only for caring for their children, but also for disclosing the diagnosis. Many of these same issues related to family functioning are reflected in the remaining articles. The article by Dr. Kimberly Wesley and colleagues explores health-related stigma experienced by parents of adolescents diagnosed with sickle cell disease.
Editorial Drs. Sarah Russell and Cynthia McCloskey focus on parent perceptions of care received by children with autism spectrum disorder, and Dr. Brenda Senger and colleagues focus on parental experiences caring for children diagnosed with mitochondrial disease, while Dr. Vitale explore the lived experience of families with a child with Prader–Willi syndrome. Each of these articles highlights the additional burden of responsibility related to genetic disease. These challenges to family functioning are extremely important for pediatric nurses to notice. While we need to “think genetically”, we also need to remember that these are still children and families looking to us for support and guidance on their clearly stressful journeys. Precision medicine directs us to take into account individual variability in genes, environment, and lifestyle, but pediatric nurses must also keep their eyes on the individuals and families living with these disorders. Martha Driessnack PhD, PPCNP-BC Oregon Health & Science University Portland, OR E-mail address: [email protected]