HLBS-PopOmics: NHLBI and CDC partner to launch a public health genomics knowledge base for heart, lung, blood, and sleep disorders

Timely and targeted dissemination of published research findings is an important step in accelerating the pace of turning discovery into health. To achieve this goal in human population genomics, the NHLBI has partnered with the CDC Office of Public Health Genomics (OPHG) to launch a heart, lung, blood, and sleep disorders knowledge base in population genomics (HLBS-PopOmics). It is an online, continuously updated, searchable database of published scientific literature, CDC and NIH resources, and other materials relevant to the translation of genomic discoveries into improved treatment and prevention of Heart and Vascular Diseases (H), Lung Diseases (L), Blood Diseases (B), and Sleep Disorders (S). HLBS-PopOmics is a specialized database of the overall CDC Public Health Genomics Knowledge Base (PHGKB). Scientific publications about PHGKB can be found here.

The inaugural posting of HLBS-PopOmics on February 27, 2018, featured seven entries on blood disorders,^1-7 six on heart and vascular disorders,^8-13 one on lung diseases,¹⁴ and one miscellaneous article on expanded prenatal carrier screening for conditions such as cystic fibrosis.¹⁵ Although there were no entry for sleep disorders on that day, entering “sleep disorders” in the search box retrieved all articles in the database related to population genomics and sleep disorders. Only the first two entries have been shown here and they address the search for insomnia genes involving 1.3 million people and described as “the largest genetic study ever”¹⁶ and a news article in Frontline Genetics that explores why some people outperform others when sleep-deprived.¹⁷

The list in the accompanying figure shows the HLBS-PopOmics health topics, which is based on the NHLBI Health Topics. Although only a few topic examples are shown, the entire NHLBI A-Z topics are available and searchable using the HLBS-PopOmics search box. The free text search function is an important feature. For example, although “bicuspid aortic valve” is not a term on the NHLBI Health Topics A-Z list, entering it in the HLBS-PopOmics search box retrieves several important population genomics articles, including these five articles.^18-22

HLBS-PopOmics is an extension of CDC and NIH partnership efforts to map the translational trajectory of discoveries of genome-based discoveries in population health benefits. In 2015, the CDC launched the Public Health Genomics Knowledge Base that features an easy to search one-stop shop to find epidemiologic studies, translational and implementation studies, evidence synthesis, guidelines, and programs relevant to a wide variety of diseases. PHGKB has been adapted for cancer topics as well as for infectious disease genomic applications. MyPHGKB also allows users to personalize their search results by choosing specific databases and topics.

HLBS-PopOmics will allow researchers, policy makers, and practitioners to stay on top of the rapidly moving developments in genomics and related fields. Most importantly, it allows them to rapidly access information on the status of translation and implementation of the relevance of emerging science in reducing the burden of heart, lung, blood and sleep disorders.

SELECTED CITATIONS

Blood Disorders

1. CRISPR could end sickle cell disease, but signing up black patients for clinical trials will be a hard sell   McFarling, Stat News, Feb 21, 2018
2. Chris Bombardier: Reaching New Heights   He is the first person with hemophilia to summit Mount Everest, Hemaware, Feb 2018
3. Sickle Cell Disease: When to Transfuse   CDC Medscape Video, Feb 2018
4. Do pregnancies reduce iron overload in HFE hemochromatosis women? results from an observational prospective study.   Scotet Virginie et al. BMC pregnancy and childbirth 2018 Feb 18(1) 53
5. Effective screening leads to better outcomes in sickle cell disease.   Shook Lisa M et al. Archives of disease in childhood 2018 Feb
6. Advances in the diagnosis and treatment of Von Willebrand disease.   Sharma Ruchika et al. Blood 2017 130(22) 2386-2391
7. Effect of polymorphisms in the CD36 and STAT3 genes on different dietary interventions among patients with coronary artery disease: study protocol for a randomized controlled trial.   Portal Vera Lucia et al. Trials 2016 17(1) 437

Heart and Vascular Disorders

8. Coronary Artery Abnormalities as the Cause of Sudden Cardiac Death: A 20-Year Review. Pawlowicz Bernard et al. The American journal of forensic medicine and pathology 2018 Feb
9. Application of Single-Nucleotide Polymorphism-Related Risk Estimates in Identification of Increased Genetic Susceptibility to Cardiovascular Diseases: A Literature Review.   Fiatal Szilvia et al. Frontiers in public health 2017 5358
10. Expert consensus recommendations on the cardiogenetic care for patients with thoracic aortic disease and their first-degree relatives.   Verhagen Judith M A et al. International journal of cardiology 2018 Feb
11. Familial Hypercholesterolemia: Cascade Screening in Children and Relatives of the Affected.  Setia Nitika et al. Indian journal of pediatrics 2018 Feb
12. Genetic determinants of heart failure: facts and numbers.   Czepluch Frauke S et al. ESC heart failure 2018 Feb
13. Prescribing Patterns of Proprotein Convertase Subtilisin-Kexin Type 9 Inhibitors in Eligible Patients with Clinical Atherosclerotic Cardiovascular Disease or Heterozygous Familial Hypercholesterolemia  DG Karalis et al, Am J Cardio, Feb 2018

Lung Diseases

14.  Advances in the Diagnosis and Management of Cystic Fibrosis in the Genomic Era.  Wiencek Joesph R et al. Clinical chemistry 2018 Feb.

Miscellaneous HLBS

15. Expanded Carrier Screening.   Gregg Anthony R et al. Obstetrics and gynecology clinics of North America 2018 Mar 45(1) 103-112.

Sleep Disorders

16. A search for insomnia genes involving 1.3 million people is the largest genetic study ever   A Regalado, MIT Tech Review, Feb 2,2018
17. Genetics May Explain Why Some People Outperform Others When Deprived of Sleep   Front Line Genomics, Jan 15, 2018

Bicuspid Aortic Valve

18. Targeted next-generation sequencing identified ADAMTS5 as novel genetic substrate in patients with bicuspid aortic valve.   Lin Xiaoping, et al. International journal of cardiology 2017 11
19. Search for genetic factors in bicuspid aortic valve disease: ACTA2 mutations do not play a major role.   Tortora Giada, et al. Interactive cardiovascular and thoracic surgery 2017 11 (5) 813-817
20. NOTCH1 Mutations in Aortic Stenosis: Association with Osteoprotegerin/RANK/RANKL.   Irtyuga Olga, et al. BioMed research international 2017 0 6917907
21. The genetic component of bicuspid aortic valve and aortic dilation. An exome-wide association study.   Gago-Díaz Marina, et al. Journal of molecular and cellular cardiology 2016 11 3-9
22. Genetics of bicuspid aortic valve aortopathy.   Andreassi Maria G et al. Current opinion in cardiology 2016 Nov 31(6) 585-592