{"id":3784,"date":"2017-01-25T09:55:20","date_gmt":"2017-01-25T14:55:20","guid":{"rendered":"http:\/\/blogs.cdc.gov\/genomics\/?p=3784"},"modified":"2024-04-09T09:25:30","modified_gmt":"2024-04-09T13:25:30","slug":"can-we-use-genetic-screening","status":"publish","type":"post","link":"https:\/\/blogs.cdc.gov\/genomics\/2017\/01\/25\/can-we-use-genetic-screening\/","title":{"rendered":"Can we use genetic screening of healthy populations to save lives and prevent disease? Join the conversation."},"content":{"rendered":"

\"a<\/a>On January 30, 2017, CDC held a special workshop<\/a> to discuss the role of public health in the implementation of genetic screening programs beyond the newborn period. The workshop\u00a0brought together panelists from the worlds of medical genetics and public health practice, including cancer, birth defects, and laboratory science. Workshop presenters and a CDC panel discussed the current status of genetic screening in the United States in the newborn period and the possibility for a public health\u00a0 screening program beyond newborns<\/a>. Newborn screening is currently the largest public health genetics program in the world. Every year, more than four million babies are screened at birth for 30 or more genetic, metabolic, and other conditions\u2014such as phenylketonuria, sickle cell disease, and cystic fibrosis\u2014that lead to disability, morbidity, and mortality.<\/p>\n

With the launch of the precision medicine initiative<\/a>,<\/u> millions of people will have their genomes sequenced. But even before such a project leads to new discoveries, we already know that many people have genetic mutations that make them more likely to get cancer, heart disease, and other conditions. We have written about some of these conditions<\/a> before, notably familial hypercholesterolemia, hereditary breast and ovarian cancer, and Lynch syndrome, which collectively affect more than two million people in the United States.<\/p>\n

Recent studies (see examples, here<\/a> and here<\/a>) are showing that these conditions are more common than previously thought, may not be adequately diagnosed as part of regular healthcare, may not be associated with strong family history for these conditions, and many affected people and their at risk relatives are not undergoing recommended treatments or preventive interventions that can prevent early deaths from cancer or heart disease.\u00a0\u00a0 In addition, disparities in implementation of existing evidence recommendations exist by race, ethnicity, and geographic location. The American College of Medical Genetics and Genomics (ACMG) has published an updated panel<\/a> of 59 genes with clinically actionable mutations that they recommend be returned to people undergoing genome sequencing studies. The list of genes includes the ones for the three genetic conditions mentioned earlier, as well as several others. Mutations in the original ACMG panel of 56 genes are common in the population. A recent study<\/a> shows that more than 1% of the population carry pathogenic mutations in these genes and are at increased risk of common diseases, regardless of their family history.<\/p>\n

To be sure, while the use of genome sequencing is promising<\/a> in certain clinical scenarios, such as rare diseases and cancer, we do not think that whole genome sequencing in the general population is appropriate at this time. We would not recommend its use outside research studies. We have written about this before<\/a> and we do not mind repeating this opinion here. But it is also becoming clearer that as science progresses, we are discovering more opportunities for using genetic screening of healthy individuals for preventing common diseases across the lifespan, outside the newborn screening context. We encourage a much-needed dialogue to assess what, when, and how genetic screening of populations should be used to prevent disease and save lives in the not too distant future.<\/p>\n

The January 30 workshop<\/a> is part of a long-term conversation that the CDC Office of Public Health Genomics would like to initiate. We have posted the presentations from our speakers here<\/a>. We will be posting soon\u00a0the presentations from our speakers and hope to continue the dialogue using responses to this post and other means. We would like to explore the role of the public health system in working with healthcare providers, payers, policy makers, and the general public to ensure that people at increased genetic risk and their relatives get appropriate counseling and life-saving interventions. Questions that need to be addressed include:<\/p>\n