Office of Public Health Genomics

Cedar City, GA, United States

Office of Public Health Genomics

Cedar City, GA, United States
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News Article | May 19, 2017
Site: news.yahoo.com

Spit in a vial, pop it back into the test-kit carton, return it to the company and voila -- within weeks you can view the results of your personal genetic analysis online. No doctor's input or counseling required -- just curiosity or concern and a couple hundred bucks or so out of pocket. You might learn you carry a gene strongly linked to inherited disorders like phenylketonuria, or PKU. Or you could discover you have a gene tied to a slightly higher risk of Alzheimer's disease. Direct-to-consumer genetic testing is becoming increasingly popular. Advocates say people have a right to access their genetic information without taking the traditional path of genomic testing. However, public health experts question the value of at-home tests or the wisdom of supplying isolated pieces of genetic information to healthy people. Without important context -- such as family and medical history and lifestyle choices -- or one-on-one counseling to aid interpretation, it's hard to know what results really mean or if they matter. [See: 5 Rare Diseases You've Never Heard of Until Now.] Yet people feel they have the right to directly access their genetic information, according to more than 80 percent of participants in a study that will be published in the June issue of The Milbank Quarterly, a health care and health policy journal. Researchers looked at survey results from about 940 consumers who'd had personal genomic testing through either 23andMe or Pathway Genomics. Most study participants supported expanded access to genetic testing services without further government regulation. However, those who believed their reports showed an elevated risk of common diseases were less supportive of expanded access without the involvement of a medical professional. Consumers taking power over their own health information is an advantage of at-home genetic testing, says Stacey Detweiler, a medical affairs associate and genetic counselor with 23andMe. In April, the company gained Food and Drug Administration approval to market personal genetic-risk tests for 10 specific diseases immediately. The "tests are intended to provide genetic-risk information to consumers, but the tests cannot determine a person's overall risk of developing a disease or condition," the FDA noted in a news release announcing the approval. "In addition to the presence of certain genetic variants, there are many factors that contribute to the development of a health condition, including environmental and lifestyle factors," the agency added. At present, 23andMe offers customers genetic-risk reports on four conditions with some familial components: late Alzheimer's disease, Parkinson's disease, hereditary thrombophilia -- a disorder involving blood-vessel clots -- and alpha-1 antitrypsin deficiency. That last condition, in which the body lacks a protective protein, can lead to lung disease in early adulthood, especially among people who smoke, and can cause liver disease as well. Detweiler points out, as does consumer information on the 23andMe website, that these tests are not diagnostic. Nor do they show whether a person will or won't develop a tested a condition, but only represent one piece of the puzzle. What results can show is for some genes associated with these conditions, people can have variants that indicate higher risk. Since 2015, the company has offered "carrier-status" testing to customers for about 40 conditions. A carrier is someone who doesn't have a specific disease, like cystic fibrosis, but possesses the genetic trait. If both members of a couple carry a genetic trait for such a condition, their children would be at risk for the disease. Earning FDA approval to market both the carrier status and genetic-risk reports involved a regulatory process. Regulation should be of interest to consumers seeking genetic tests sold online, experts say. All laboratories that perform genetic and other health-related testing are subject to federal regulatory standards, according to the Genetics Home Reference website of the National Institutes of Health. However, some direct-to-consumer genetic testing labs have not been certified to show that they meet these standards. So it can be difficult to determine the quality of these tests or whether their results are valid. Three types of health reports are available from 23andMe: genetic health risk, carrier status and wellness. Carrier status reports list variants for some genes tied to conditions including cystic fibrosis, sickle cell anemia and Tay-Sachs disease -- a rare, fatal disorder affecting the brain and nervous system. This could be potentially useful information for couples considering pregnancy, if they worry they both might be carriers of an inherited condition. But, the package insert cautions: "These tests cannot determine your overall risk of developing a disease in the future. These tests are not intended to diagnose any disease." In addition, it warns: "You should consult with a health care professional if you have any questions about your results." [See: 9 Things You Didn't Know About Sickle Cell Disease.] Take Alzheimer's, for example -- a devastating condition with no known cure and only a few potential but unproven preventive measures. The obvious question is: What good does it do to learn from a test that you might be at higher risk? Alzheimer's testing typically centers on the APOE gene, specifically the variety known as APOE4, says Lawrence Brody, a senior investigator with the National Human Genome Research Institute. "Having that version does increase your risk of having Alzheimer's," he explains. "That said, I think most people who carry it will never get Alzheimer's disease." For those who carry two copies of this gene, he says, "they're not highly predictive, but they're really good indicators that you're at increased risk compared to someone who doesn't have it." Conversely, If you don't have the APOE4 gene, you would be at slightly decreased risk. Genetic testing is much more powerful for strongly familial diseases, Brody says. Positive test results for conditions such as Huntington's disease, sickle cell disease, cystic fibrosis and even inherited breast cancers are highly meaningful, he says. "But those are the exceptions, not the rule," he adds. At-home tests for conditions that are not genetic -- such as kits to detect pregnancy or HIV -- might provide the most useful, actionable information for consumers. On the other hand, Brody says, direct-to-consumer genetic testing falls a little bit more into the realm of "recreational" genetics. That is, the information might be nice to know but not necessarily useful from a medical standpoint. If anything, your regular health provider may brush off these results or lack the knowledge to interpret them. "I don't think the medical community is that interested at this point in dealing with the results of a home test," Brody says. Most geneticists don't believe in blocking this type of direct-to-consumer access, Brody says. Instead, he adds: "We think if we're going to have people learn about their own genome, we want to make sure they really understand it and are comprehending what things mean and don't mean." [See: Do's and Don'ts of Home Medical Devices.] For now, "Think before you spit," is the public message on at-home genetic testing from the Centers for Disease Control and Prevention. In an ever-evolving arena, the agency has adopted a "cautionary" approach to these tests, Dr. Muin Khoury, director of the CDC's Office of Public Health Genomics, posted in his ongoing blog on the hot health topic. The agency has given such tests a "tier 3" rating, implying there's no evidence to support their clinical validity or usefulness for healthy people. On the positive side, the blog notes, most evidence reveals little or no harm to personal genomic testing. What's missing is evidence of benefit: whether having this genomic information really spurs people to change their behavior. It hasn't been shown that people go on to make changes under their control -- like quitting smoking -- to reduce their risk of developing common diseases, since they can't alter their genetic risk. "As a consumer, if I'm a healthy person with no overt disease, I wouldn't waste my time," Khoury says. "If you are sick and have a condition, go to your provider, who will take a family history and depending on what that is, may or may not direct you to genetic counseling." It's possible, as proponents suggest, that learning you have a higher-risk gene variant could motivate you to change your lifestyle or explore your medical history. But you don't need a genetic test to start exercising or eating healthier. And in most (but not all) cases, you don't need a genetic-risk report to spur a discussion on family history -- just reach out to your relatives and ask. Lisa Esposito is a Patient Advice reporter at U.S. News. She covers health conditions, drawing on experience as an RN in oncology and other areas and as a research coordinator at the National Institutes of Health. Esposito previously reported on health care with Gannett, and she received her journalism master's degree at Georgetown University. You can follow her on Twitter, connect with her on LinkedIn or email her at lesposito@usnews.com.


McBride C.M.,National Human Genome Research Institute | Bowen D.,Boston University | Brody L.C.,National Human Genome Research Institute | Condit C.M.,University of Georgia | And 8 more authors.
American Journal of Preventive Medicine | Year: 2010

Despite the quickening momentum of genomic discovery, the communication, behavioral, and social sciences research needed for translating this discovery into public health applications has lagged behind. The National Human Genome Research Institute held a 2-day workshop in October 2008 convening an interdisciplinary group of scientists to recommend forward-looking priorities for translational research. This research agenda would be designed to redress the top three risk factors (tobacco use, poor diet, and physical inactivity) that contribute to the four major chronic diseases (heart disease, type 2 diabetes, lung disease, and many cancers) and account for half of all deaths worldwide. Three priority research areas were identified: (1) improving the public's genetic literacy in order to enhance consumer skills; (2) gauging whether genomic information improves risk communication and adoption of healthier behaviors more than current approaches; and (3) exploring whether genomic discovery in concert with emerging technologies can elucidate new behavioral intervention targets. Important crosscutting themes also were identified, including the need to: (1) anticipate directions of genomic discovery; (2) take an agnostic scientific perspective in framing research questions asking whether genomic discovery adds value to other health promotion efforts; and (3) consider multiple levels of influence and systems that contribute to important public health problems. The priorities and themes offer a framework for a variety of stakeholders, including those who develop priorities for research funding, interdisciplinary teams engaged in genomics research, and policymakers grappling with how to use the products born of genomics research to address public health challenges. © 2010.


Zhang L.,Office of Public Health Genomics | Zhang L.,National Center for HIV AIDS | Yesupriya A.,Office of Public Health Genomics | Hu D.J.,National Center for HIV AIDS | And 6 more authors.
Hepatology | Year: 2012

Hepatitis A vaccination has dramatically reduced the incidence of hepatitis A virus (HAV) infection, but new infections continue to occur. To identify human genetic variants conferring a risk for HAV infection among the three major racial/ethnic populations in the United States, we assessed associations between 67 genetic variants (single nucleotide polymorphisms [SNPs]) among 31 candidate genes and serologic evidence of prior HAV infection using a population-based, cross-sectional study of 6,779 participants, including 2,619 non-Hispanic whites, 2,095 non-Hispanic blacks, and 2,065 Mexican Americans enrolled in phase 2 (1991-1994) of the Third National Health and Nutrition Examination Survey. Among the three racial/ethnic groups, the number (weighted frequency) of seropositivity for antibody to HAV was 958 (24.9%), 802 (39.2%), and 1540 (71.5%), respectively. No significant associations with any of the 67 SNPs were observed among non-Hispanic whites or non-Hispanic blacks. In contrast, among Mexican Americans, variants in two genes were found to be associated with an increased risk of HAV infection: TGFB1 rs1800469 (adjusted odds ratio [OR], 1.38; 95% confidence interval [CI], 1.14-1.68; P value adjusted for false discovery rate [FDR-P] = 0.017) and XRCC1 rs1799782 (OR, 1.57; 95% CI, 1.27-1.94; FDR-P = 0.0007). A decreased risk was found with ABCB1 rs1045642 (OR, 0.79; 95% CI, 0.71-0.89; FDR-P = 0.0007). Conclusion: Genetic variants in ABCB1, TGFB1, and XRCC1 appear to be associated with susceptibility to HAV infection among Mexican Americans. Replication studies involving larger population samples are warranted. © 2011 American Association for the Study of Liver Diseases.


Khoury M.J.,Office of Public Health Genomics | Khoury M.J.,U.S. National Cancer Institute | Gwinn M.L.,Office of Public Health Genomics | Glasgow R.E.,U.S. National Cancer Institute | Kramer B.S.,U.S. National Cancer Institute
American Journal of Preventive Medicine | Year: 2012

The term P4 medicine is used to denote an evolving field of medicine that uses systems biology approaches and information technologies to enhance wellness rather than just treat disease. Its four components include predictive, preventive, personalized, and participatory medicine. In the current paper, it is argued that in order to fulfill the promise of P4 medicine, a "fifth P" must be integrated - the population perspective - into each of the other four components. A population perspective integrates predictive medicine into the ecologic model of health; applies principles of population screening to preventive medicine; uses evidence-based practice to personalize medicine; and grounds participatory medicine on the three core functions of public health: assessment, policy development, and assurance. Population sciences - including epidemiology; behavioral, social, and communication sciences; and health economics, implementation science, and outcomes research - are needed to show the value of P4 medicine. Balanced strategies that implement both population- and individual-level interventions can best maximize health benefits, minimize harm, and avoid unnecessary healthcare costs. © 2012 American Journal of Preventive Medicine.


Yang Q.,Office of Public Health Genomics | Bailey L.,University of Georgia | Clarke R.,University of Oxford | Flanders W.D.,Emory University | And 4 more authors.
American Journal of Clinical Nutrition | Year: 2012

Background: The association between blood homocysteine concentration and the risk of cardiovascular disease (CVD) remains controversial, but few studies have examined the association between MTHFR C677T (a proxy for high homocysteine concentration) and death from CVD. Objective: The objective was to examine associations of MTHFR C677T, a proxy for high homocysteine concentrations, with CVD mortality and with all-cause mortality in a national representative prospective cohort of the US adult population before the introduction of mandatory folic acid fortification of flour. Design: We used Mendelian randomization to examine the association of MTHFR C677T with cause-specific mortality in 5925 participants by accessing the NHANES III (1991-1994) Linked Mortality File (through 2006). Results: A comparison of homozygotes at baseline showed that individuals with a TT genotype had a 2.2-μmol/L higher homocysteine and a 1.4-ng/mL lower folate concentration, respectively, than did those with a CC genotype. The TT genotype frequency varied from 1.2% (95% CI: 0.7, 2.0) in non-Hispanic blacks and 11.6% (95% CI: 9.6, 14.0) in non-Hispanic whites to 19.4% (95% CI: 16.7, 22.3) in Mexican Americans. After adjustment for ethnic group and other CVD risk factors, the MTHFR C677T TT genotype was associated with significantly lower CVD mortality (HR: 0.69; 95% CI: 0.50, 0. 95) but had no significant effect on all-cause mortality (HR: 0.79; 95% CI: 0.59, 1.05). After stratification by period of followup, the inverse association of MTHFR with CVD mortality was significant only in the period after introduction of mandatory folic acid fortification. Conclusion: The inverse association of MTHFR with CVD mortality was unexpected and highlights the need for caution in interpretation of Mendelian randomization studies, which, like other observational studies, can be influenced by chance, bias, or confounding. © 2012 American Society for Nutrition.


Amendah D.D.,National Center on Birth Defects and Developmental Disabilities | Mvundura M.,Office of Public Health Genomics | Kavanagh P.L.,Boston University | Sprinz P.G.,Boston University | Grosse S.D.,National Center on Birth Defects and Developmental Disabilities
American Journal of Preventive Medicine | Year: 2010

Background: Although it is known that people with sickle cell disease (SCD) have relatively high utilization of medical care, most previous estimates of SCD-attributable expenditures have been limited to either inpatient care or single-state data. Purpose: To extend known findings by measuring the attributable or incremental expenditures per child with SCD compared to children without this illness and to thereby estimate SCD-attributable expenditures among children in the U.S. Methods: MarketScan Medicaid and Commercial Claims databases for 2005 were used to estimate total medical expenditures of children with and without SCD. Expenditures attributable to SCD were calculated as the difference in age-adjusted mean expenditures during 2005 for children with SCD relative to children without SCD in the two databases. Results: Children with SCD incurred medical expenditures that were $9369 and $13,469 higher than those of children without SCD enrolled in Medicaid and private insurance, respectively. In other words, expenditures of children with SCD were 6 and 11 times those of children without SCD enrolled in Medicaid and private insurance, respectively. Conclusions: Using a large, multistate, multipayer patient sample, SCD-attributable medical expenditures in children were conservatively and approximately estimated at $335 million in 2005.


Bellcross C.,National Office of Public Health Genomics | Dotson W.D.,Office of Public Health Genomics
PLoS Currents | Year: 2010

Differences in the expression of specific genes within breast tumors have been associated with risk of recurrence after treatment. Most women with Stage I or II node-negative breast cancer (especially when estrogen-receptor positive and treated with tamoxifen) remain disease-free at 10 years. Information on risk of recurrence could help identify women most likely to benefit from chemotherapy. Several clinically available gene expression profiles (GEP) provide "recurrence risk scores" that are intended to supplement information used by clinicians and patients in treatment decision-making.


Gwinn M.,McKing Consulting Corporation | Dotson W.D.,Office of Public Health Genomics | Khoury M.J.,Office of Public Health Genomics
PLoS Currents | Year: 2010

Evidence on Genomic Tests is an open access publication option for communicating high-quality, scientific information that is needed to evaluate health applications of genomic research. By using Google's knol platform, we aim to reduce conventional barriers to sharing, updating, and accessing the results of knowledge synthesis and to increase the benefits to authors and users alike. Good, fast, and affordable technologies are driving the "genomics revolution" in biomedical research. The Internet serves as an amplifier, rapidly publishing research findings and publicizing them to a wide audience. Public interest in the field has focused on potential health applications, especially genomic tests for predicting, diagnosing, and managing common diseases. Although many such tests are emerging, information on their clinical validity and utility tends to be scattered and incomplete.


PubMed | Office of Public Health Genomics
Type: Journal Article | Journal: The American journal of clinical nutrition | Year: 2012

The association between blood homocysteine concentration and the risk of cardiovascular disease (CVD) remains controversial, but few studies have examined the association between MTHFR C677T (a proxy for high homocysteine concentration) and death from CVD.The objective was to examine associations of MTHFR C677T, a proxy for high homocysteine concentrations, with CVD mortality and with all-cause mortality in a national representative prospective cohort of the US adult population before the introduction of mandatory folic acid fortification of flour.We used Mendelian randomization to examine the association of MTHFR C677T with cause-specific mortality in 5925 participants by accessing the NHANES III (1991-1994) Linked Mortality File (through 2006).A comparison of homozygotes at baseline showed that individuals with a TT genotype had a 2.2-mol/L higher homocysteine and a 1.4-ng/mL lower folate concentration, respectively, than did those with a CC genotype. The TT genotype frequency varied from 1.2% (95% CI: 0.7, 2.0) in non-Hispanic blacks and 11.6% (95% CI: 9.6, 14.0) in non-Hispanic whites to 19.4% (95% CI: 16.7, 22.3) in Mexican Americans. After adjustment for ethnic group and other CVD risk factors, the MTHFR C677T TT genotype was associated with significantly lower CVD mortality (HR: 0.69; 95% CI: 0.50, 0. 95) but had no significant effect on all-cause mortality (HR: 0.79; 95% CI: 0.59, 1.05). After stratification by period of follow-up, the inverse association of MTHFR with CVD mortality was significant only in the period after introduction of mandatory folic acid fortification.The inverse association of MTHFR with CVD mortality was unexpected and highlights the need for caution in interpretation of Mendelian randomization studies, which, like other observational studies, can be influenced by chance, bias, or confounding.


PubMed | Office of Public Health Genomics
Type: Journal Article | Journal: American journal of preventive medicine | Year: 2012

The term P4 medicine is used to denote an evolving field of medicine that uses systems biology approaches and information technologies to enhance wellness rather than just treat disease. Its four components include predictive, preventive, personalized, and participatory medicine. In the current paper, it is argued that in order to fulfill the promise of P4 medicine, a fifth P must be integrated-the population perspective-into each of the other four components. A population perspective integrates predictive medicine into the ecologic model of health; applies principles of population screening to preventive medicine; uses evidence-based practice to personalize medicine; and grounds participatory medicine on the three core functions of public health: assessment, policy development, and assurance. Population sciences-including epidemiology; behavioral, social, and communication sciences; and health economics, implementation science, and outcomes research-are needed to show the value of P4 medicine. Balanced strategies that implement both population- and individual-level interventions can best maximize health benefits, minimize harm, and avoid unnecessary healthcare costs.

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