Use of genomic panels to determine risk of developing type 2 diabetes in the general population: a targeted evidence-based review

Palomaki, Glenn E.; Melillo, Stephanie; Marrone, Michael; Douglas, Michael P.

doi:10.1038/gim.2013.8

Cited by 11 publications

(7 citation statements)

References 45 publications

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“…We demonstrate that the genome of the sequenced individual, who suffers from Type 2 diabetes, harbors as many as 72 (out of the 159) variants previously associated with Type 2 diabetes. This observation has implications on global initiatives that strive to develop genome panels to help in genetic susceptibility testing for Type 2 diabetes [ 59 , 60 ]. Several commercial companies offer genome panels incorporating up to 38 variants designed for different ethnicities [ 61 ].…”

Section: Discussionmentioning

confidence: 99%

Sequence and analysis of a whole genome from Kuwaiti population subgroup of Persian ancestry

et al. 2015

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BackgroundThe 1000 Genome project paved the way for sequencing diverse human populations. New genome projects are being established to sequence underrepresented populations helping in understanding human genetic diversity. The Kuwait Genome Project an initiative to sequence individual genomes from the three subgroups of Kuwaiti population namely, Saudi Arabian tribe; “tent-dwelling” Bedouin; and Persian, attributing their ancestry to different regions in Arabian Peninsula and to modern-day Iran (West Asia). These subgroups were in line with settlement history and are confirmed by genetic studies. In this work, we report whole genome sequence of a Kuwaiti native from Persian subgroup at >37X coverage.ResultsWe document 3,573,824 SNPs, 404,090 insertions/deletions, and 11,138 structural variations. Out of the reported SNPs and indels, 85,939 are novel. We identify 295 ‘loss-of-function’ and 2,314 ’deleterious’ coding variants, some of which carry homozygous genotypes in the sequenced genome; the associated phenotypes include pharmacogenomic traits such as greater triglyceride lowering ability with fenofibrate treatment, and requirement of high warfarin dosage to elicit anticoagulation response. 6,328 non-coding SNPs associate with 811 phenotype traits: in congruence with medical history of the participant for Type 2 diabetes and β-Thalassemia, and of participant’s family for migraine, 72 (of 159 known) Type 2 diabetes, 3 (of 4) β-Thalassemia, and 76 (of 169) migraine variants are seen in the genome. Intergenome comparisons based on shared disease-causing variants, positions the sequenced genome between Asian and European genomes in congruence with geographical location of the region. On comparison, bead arrays perform better than sequencing platforms in correctly calling genotypes in low-coverage sequenced genome regions however in the event of novel SNP or indel near genotype calling position can lead to false calls using bead arrays.ConclusionsWe report, for the first time, reference genome resource for the population of Persian ancestry. The resource provides a starting point for designing large-scale genetic studies in Peninsula including Kuwait, and Persian population. Such efforts on populations under-represented in global genome variation surveys help augment current knowledge on human genome diversity.Electronic supplementary materialThe online version of this article (doi:10.1186/s12864-015-1233-x) contains supplementary material, which is available to authorized users.

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Section: Discussionmentioning

confidence: 99%

Sequence and analysis of a whole genome from Kuwaiti population subgroup of Persian ancestry

et al. 2015

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“…Educational materials about genetics and T2DM and general information about testing provided by the research coordinator and genetic counselor at the beginning of the study may have provided sufficient information for participants. Lastly, as there have been questions and concerns about the clinical utility or usefulness of genomic risk for common diseases like T2DM (EGAPP 2007; Prudente et al 2012; Palomaki et al 2013), participants may not have perceived the results as significant for their health, and thus, did not warrant seeking additional information. Our study population’s high e-health literacy, experience and reported ease with finding online health information in the past makes it unlikely they would have had difficulty searching for additional information if desired.…”

Section: Discussionmentioning

confidence: 99%

Information‐Seeking and Sharing Behavior Following Genomic Testing for Diabetes Risk

Mills

Powell

Barry

et al. 2014

Journal of Genetic Counseling

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As the practice of medicine has become more patient-driven, patients are increasingly seeking health information within and outside of their doctor’s office. Patients looking for information and support are often turning to the Internet as well as family and friends. As part of a study to understand the impact of delivery method of genomic testing for type 2 diabetes risk on comprehension and health-related behaviors, we assessed participants’ information-seeking and sharing behaviors after receiving their results in-person with a genetic counselor or online through the testing company’s website. We found that 32.6% of participants sought information after receiving the genomic test results for T2DM; 80.8% of those that did seek information turned to the Internet. Eighty-eight percent of participants reported that they shared their T2DM risk results, primarily with their spouse/partner (65%) and other family members (57%) and children (19%); 14% reported sharing results with their health provider. Sharing was significantly increased in those who received results in-person from the genetic counselor (p=0.0001). Understanding patients’ interests and needs for additional information after genomic testing and with whom they share details of their health is important as more information and clinical services are available and accessed outside the clinician’s office. Genetic counselors’ expertise and experience in creating educational materials and promoting sharing of genetic information can facilitate patient engagement and education.

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“…In particular, 39% of 5297 individuals switched between risk categories once and 11% switched twice. A study by Palomaki et al [ 139 ] of type 2 diabetes, genomic risk profiles advertised by DTC-GT companies highlighted a lack of analytical validity and clinical utility in the tests through the Evaluation of Genomic Applications in Practice and Prevention Working Group. This approach was established to support the development of a systematic process for assessing the available evidence for GT in clinical practice.…”

Section: Resultsmentioning

confidence: 99%

Internet-Based Direct-to-Consumer Genetic Testing: A Systematic Review

Covolo¹,

Rubinelli²,

Ceretti³

et al. 2015

J Med Internet Res

114

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BackgroundDirect-to-consumer genetic tests (DTC-GT) are easily purchased through the Internet, independent of a physician referral or approval for testing, allowing the retrieval of genetic information outside the clinical context. There is a broad debate about the testing validity, their impact on individuals, and what people know and perceive about them.ObjectiveThe aim of this review was to collect evidence on DTC-GT from a comprehensive perspective that unravels the complexity of the phenomenon.MethodsA systematic search was carried out through PubMed, Web of Knowledge, and Embase, in addition to Google Scholar according to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) checklist with the key term “Direct-to-consumer genetic test.”ResultsIn the final sample, 118 articles were identified. Articles were summarized in five categories according to their focus on (1) knowledge of, attitude toward use of, and perception of DTC-GT (n=37), (2) the impact of genetic risk information on users (n=37), (3) the opinion of health professionals (n=20), (4) the content of websites selling DTC-GT (n=16), and (5) the scientific evidence and clinical utility of the tests (n=14). Most of the articles analyzed the attitude, knowledge, and perception of DTC-GT, highlighting an interest in using DTC-GT, along with the need for a health care professional to help interpret the results. The articles investigating the content analysis of the websites selling these tests are in agreement that the information provided by the companies about genetic testing is not completely comprehensive for the consumer. Given that risk information can modify consumers’ health behavior, there are surprisingly few studies carried out on actual consumers and they do not confirm the overall concerns on the possible impact of DTC-GT. Data from studies that investigate the quality of the tests offered confirm that they are not informative, have little predictive power, and do not measure genetic risk appropriately.ConclusionsThe impact of DTC-GT on consumers’ health perceptions and behaviors is an emerging concern. However, negative effects on consumers or health benefits have yet to be observed. Nevertheless, since the online market of DTC-GT is expected to grow, it is important to remain aware of a possible impact.

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Use of genomic panels to determine risk of developing type 2 diabetes in the general population: a targeted evidence-based review

Cited by 11 publications

References 45 publications

Sequence and analysis of a whole genome from Kuwaiti population subgroup of Persian ancestry

Sequence and analysis of a whole genome from Kuwaiti population subgroup of Persian ancestry

Information‐Seeking and Sharing Behavior Following Genomic Testing for Diabetes Risk

Internet-Based Direct-to-Consumer Genetic Testing: A Systematic Review

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