Health effects of the CPT1A P479L variant: responsible public health policy

TY - JOUR

T1 - Health effects of the CPT1A P479L variant

T2 - responsible public health policy

AU - Koeller, David M.

AU - Hirschfeld, Matt

AU - Birch, Stephanie

AU - Wood, Thalia

AU - Morisse, Rebekah

AU - Anckner, Sabra

AU - Gessner, Bradford D.

N1 - Funding Information: One of the public health efforts undertaken in Alaska that the authors have questioned was production of an educational video to inform parents and others about prevention of risks associated with prolonged fasting among homozygous infants. 11 It includes guidelines regarding how long infants and children can safely go between meals, as well as signs and symptoms that suggest a child may need to be seen by a health-care provider. The authors state concern regarding the value of efforts “to promote dietary interventions” and “change infant feeding practices” because they are “unproven.” However, the video does not include any recommendations regarding the types of foods that infants and children should eat when healthy. Additionally, the guidelines regarding fasting and interventions during illness are the same as those given to parents of all children with fatty acid oxidation disorders, which we think is merited based upon the evidence of risk for these children. The authors also state concern that “Public health messages regarding an increased risk of infant mortality could also lead to parental worry and frequent visits to health-care providers.” Although the video includes no mention of infant mortality, we agree that informing parents about potential risks could lead to worry and increased health-care utilization. This issue, however, is no different for the P479L variant than for other conditions that place children at risk. And unlike many conditions, parents can effectively reduce any risk through relatively simple interventions. We consider it an obligation for health-care providers and public health agencies to inform parents about potential risks and empower them to prevent serious consequences, rather than adopting a paternalistic attitude of unilaterally deciding to withhold information until more definitive studies can be performed. We also note that this video was produced as a collaborative effort between the Division of Public Health in the Alaska Department of Health and Social Services, and Southcentral Foundation, an Alaska Native–owned, nonprofit health-care organization that serves approximately 65,000 Alaska Native and American Indian people living in the Anchorage region. Financial support for the DVD was provided by the Western States Regional Genetics Collaborative, with additional support from the Norton Sound Health Corporation, an Alaska Native–owned corporation that provides health care to Alaska Native people living in Nome and rural villages within the Norton Sound Region. Leadership from both Southcentral Foundation and Norton Sound Health Corporation, along with leadership from many other Tribal Health organizations, was in full support of the educational DVD to provide information on the P479L variant for families. Further evidence of Tribal Health support for education about the P479L variant is demonstrated by the efforts undertaken by the Department of Pediatrics at the Alaska Native Medical Center to educate and provide medical support to all health-care providers in Alaska who care for children with the P479L variant. This includes incorporation of information about fasting and other concerns in homozygous children into a handbook written for health-care providers working with Alaska Native patients. 12

PY - 2017/12

Y1 - 2017/12

UR - http://www.scopus.com/inward/record.url?scp=85048968365&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=85048968365&partnerID=8YFLogxK

U2 - 10.1038/gim.2017.116

DO - 10.1038/gim.2017.116

M3 - Article

C2 - 28771253

AN - SCOPUS:85048968365

SN - 1098-3600

VL - 19

SP - 1380

EP - 1382

JO - Genetics in Medicine

JF - Genetics in Medicine

IS - 12

ER -