Finishing the euchromatic sequence of the human genome

The sequence of the human genome encodes the genetic instructions for human physiology, as well as rich information about human evolution. In 2001, the International Human Genome Sequencing Consortium reported a draft sequence of the euchromatic portion of the human genome. Since then, the international collaboration has worked to convert this draft into a genome sequence with high accuracy and nearly complete coverage. Here, we report the result of this finishing process. The current genome sequence (Build 35) contains 2.85 billion nucleotides interrupted by only 341 gaps. It covers ∼99% of the euchromatic genome and is accurate to an error rate of ∼1 event per 100,000 bases. Many of the remaining euchromatic gaps are associated with segmental duplications and will require focused work with new methods. The near-complete sequence, the first for a vertebrate, greatly improves the precision of biological analyses of the human genome including studies of gene number, birth and death. Notably, the human enome seems to encode only 20,000-25,000 protein-coding genes. The genome sequence reported here should serve as a firm foundation for biomedical research in the decades ahead

Abstract A35: Barriers faced and enablers used by community health workers in 3 underserved communities on cervical cancer screening among Haitian, Hispanic, and African American women

Abstract As trusted members of their communities, community health workers (CHWs) have the potential to link hard-to-reach underserved populations with appropriate health care. As part of a National Cancer Institute (NCI)-funded initiative, we are examining the effectiveness of CHWs at increasing cervical cancer screening among minority women. CHWs are placed at one of three federally qualified health centers (FQHCs)/FHQC-look alike and obtain additional input from project specific Community Advisory Boards (CABs) in each community. Using a mixed methods approach consisting of quantitative recruitment data as well as key informant interviews we have identified several barriers and enablers for outreach, recruitment and retention of participants in our project. CHW characteristics facilitating study participant recruitment and retention include: personality, prior field experience, language, cultural congruence, degree of familiarity with community, ability to connect with their CAB members and degree of interaction with existing resources at their respective FQHCs (programmatic, structural, environmental and personnel). Ongoing CWH training and quality control were also important enablers of achieving our recruitment targets. Study participant characteristics such as cultural norms/beliefs, immigration status, health insurance, and economic factors (ability to meet clinic co-payments) were frequently cited as barriers. Structural/organizational characteristics of each FQHCs such as how health services are delivered, paperwork requirements, accessibility of location and tight linkages with local health departments also served as enablers and/or barriers. Lessons learned from our CHW led cervical cancer screening study can be applied to many distinct community based programs aimed at improving health care in underserved communities. Note: This abstract was withdrawn after the Proceedings was printed and was not presented at the conference. Citation Format: Brendaly Rodriguez, Shelia McCann, Olveen Carrasquillo, Erin Kobetz, Anthony Amofah, Tulay Koru-Sengul. Barriers faced and enablers used by community health workers in 3 underserved communities on cervical cancer screening among Haitian, Hispanic, and African American women. [abstract]. In: Proceedings of the Sixth AACR Conference: The Science of Cancer Health Disparities; Dec 6–9, 2013; Atlanta, GA. Philadelphia (PA): AACR; Cancer Epidemiol Biomarkers Prev 2014;23(11 Suppl):Abstract nr A35. doi:10.1158/1538-7755.DISP13-A35</jats:p

Abstract B53: A case study on differences on cervical cancer screening knowledge and prevention practices among Latinas at two sites in a community-based participatory randomized control trial in South Florida

Abstract Immigrant Latinas are less likely to be screened for cervical cancer. With National Cancer Institute (NCI) support, we are examining the effectiveness of community health workers (CHWs) at increasing cervical cancer screening using self-sampling for the Human Papilloma virus (HPV, done free) versus clinic referral for traditional Pap Smear screening (nominal co-payments). Out of 455 participants enrolled to date, one site (Hialeah) serves mostly Cuban women (N=152) and the other site (Southern Miami-Dade County, SMD) serves a predominantly non-Cuban Latino population (N=112 plus 39 non Hispanic). Using a mixed methods quantitative/qualitative approach, we examined differences in demographics, cervical cancer knowledge and prevention practices among participants at these sites. Latino participants in Hialeah were younger, more recent immigrants, more educated, insured, higher literacy (SAHLSA), and higher cervical cancer knowledge that those in SMD. Most participants in Hialeah (95%) preferred HPV self-sampling citing familiarity with home based vaginal screening in Cuba and preferences for health services that were free as main reason for choosing HPV self-sampling. In SMD only half the population chose the HPV self-sampler. Cultural discomfort with vaginal self-sampling, preference for a doctor to perform a vaginal exam, and greater willingness to pay for health care services (despite lower SES) were found be major reasons why many women in SMD preferred being referred to a clinic for a traditional Pap smear. This study again highlights major differences in health knowledge and behaviors among different Latino subgroups. It also emphasizes the need for community based health programs to be tailored to the specific needs and practices of distinct Latino communities. Citation Format: Brendaly Rodriguez, Olveen Carrasquillo, Erin Kobetz, Martha Gonzalez, Tulay Koru-Sengal, Feng Miao, Shelia McCann, Anthony Amofah, Brigitte Frett. A case study on differences on cervical cancer screening knowledge and prevention practices among Latinas at two sites in a community-based participatory randomized control trial in South Florida. [abstract]. In: Proceedings of the Sixth AACR Conference: The Science of Cancer Health Disparities; Dec 6–9, 2013; Atlanta, GA. Philadelphia (PA): AACR; Cancer Epidemiol Biomarkers Prev 2014;23(11 Suppl):Abstract nr B53. doi:10.1158/1538-7755.DISP13-B53</jats:p

HPV Self-Sampling for Cervical Cancer Screening Among Ethnic Minority Women in South Florida: a Randomized Trial

Ethnic minority women are at increased risk of cervical cancer. Self-sampling for high-risk human papillomavirus (HPV) is a promising approach to increase cervical screening among hard-to-reach populations. To compare a community health worker (CHW)-led HPV self-sampling intervention with standard cervical cancer screening approaches. A 26-week single-blind randomized pragmatic clinical trial. From October 6, 2011 to July 7, 2014, a total of 601 Black, Haitian, and Hispanic women aged 30-65 years in need of cervical cancer screening were recruited, 479 of whom completed study follow-up. Participants were randomized into three groups: (1) outreach by CHWs and provision of culturally tailored cervical cancer screening information (outreach), (2) individualized CHW-led education and navigation to local health care facilities for Pap smear (navigation), or (3) individualized CHW-led education with a choice of HPV self-sampling or CHW-facilitated navigation to Pap smear (self-swab option). The proportion of women in each group whom self-reported completion of cervical cancer screening. Women lost to follow-up were considered as not having been screened. Of the 601 women enrolled, 355 (59%) were Hispanic, 210 (35%) were Haitian, and 36 (6%) were non-Haitian Black. In intent-to-treat analyses, 160 of 207 (77%) of women in the self-swab option group completed cervical cancer screening versus 57 of 182 (31%) in the outreach group (aOR 95% CI, p < 0.01) and 90 of 212 (43%) in the navigation group (aOR CI, p = 0.02). As compared to more traditional approaches, CHW-facilitated HPV self-sampling led to increased cervical cancer screening among ethnic minority women in South Florida. Clinical Trials.gov Identifier: NCT02121548