79 research outputs found

    Octomom and Multi-Fetal Pregnancies: Why Federal Legislation Should Require Insurers to Cover In Vitro Fertilization

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    On January 26, 2009, Nadya Suleman, dubbed Octomom by the media, delivered octuplets after using in vitro fertilization. The same day, Congressman Anthony Weiner of New York introduced the Family Building Act of 2009 in the United States House of Representatives—a federal mandate requiring insurers to provide coverage for in vitro fertilization. The octuplets are no longer headline news, but issues associated with in vitro fertilization are still newsworthy. In this paper I propose that Congress should take a serious look at the Family Building Act of 2009. After addressing some additional issues, Congress should pass legislation mandating that insurers provide coverage for in vitro fertilization. Such legislation will have the effect of reducing the number of multi-fetal pregnancies and preterm births, as well as the costs and risks associated with such pregnancies and births. Although in vitro fertilization is used to treat infertility, it has replaced one problem (the inability to procreate) with a more serious problem (multi-fetal pregnancies). This problem exists largely because the fertility industry is not regulated. While the American Society of Reproductive Medicine (ASRM)and the Society for Reproductive Technology (SART) have issued permissive industry guidelines, there is no serious consequence to the physician or clinic that ignores those guidelines. As in vitro fertilization is expensive and largely funded with out-of-pocket monies, patients and their physicians are inclined to transfer more than one embryo for implantation during each cycle of in vitro fertilization. They do so in order to increase the chances of a “successful” pregnancy and maximize a patient’s use of funds. As a result, women who undergo in vitro fertilization often have more than one baby at a time. Moreover, the only federal law that regulates the industry—the Fertility Clinic Success Rate and Certification Act—also encourages multiple embryo transfers by requiring physicians and clinics to report their pregnancy success rates each year. A successful pregnancy is one that results in a live birth—regardless of how many children. This encourages physicians to transfer multiple embryos to increase their chances of a successful pregnancy so that they can attract additional consumers. Because the human uterus is designed to carry only one baby at a time, multi-fetal pregnancies are risky and usually result in preterm babies. The children often have long-term health and other needs. This is a public health concern. The Family Building Act would help regulate the largely unregulated fertility industry. If passed, women and their physicians would be inclined to transfer fewer embryos for implantation during a cycle of in vitro fertilization because an unsuccessful pregnancy would not mean the loss of out-of-pocket dollars. A patient would be more willing to try again if insurance covered the procedure. Furthermore, physician reimbursement rates could be tied to the industry guidelines. A federal mandate requiring insurers to cover in vitro fertilization would strengthen the industry guidelines without a need for an additional regulatory industry. An insurance mandate will reduce the incidence of multi-fetal pregnancies, the largest problem associated with in vitro fertilization, and ultimately increase the incidence of healthy single-baby pregnancies

    Evaluation of polygenic risk scores for breast and ovarian cancer risk prediction in BRCA1 and BRCA2 mutation carriers

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    Background: Genome-wide association studies (GWAS) have identified 94 common single-nucleotide polymorphisms (SNPs) associated with breast cancer (BC) risk and 18 associated with ovarian cancer (OC) risk. Several of these are also associated with risk of BC or OC for women who carry a pathogenic mutation in the high-risk BC and OC genes BRCA1 or BRCA2. The combined effects of these variants on BC or OC risk for BRCA1 and BRCA2 mutation carriers have not yet been assessed while their clinical management could benefit from improved personalized risk estimates. Methods: We constructed polygenic risk scores (PRS) using BC and OC susceptibility SNPs identified through population-based GWAS: for BC (overall, estrogen receptor [ER]-positive, and ER-negative) and for OC. Using data from 15 252 female BRCA1 and 8211 BRCA2 carriers, the association of each PRS with BC or OC risk was evaluated using a weighted cohort approach, with time to diagnosis as the outcome and estimation of the hazard ratios (HRs) per standard deviation increase in the PRS. Results: The PRS for ER-negative BC displayed the strongest association with BC risk in BRCA1 carriers (HR = 1.27, 95% confidence interval [CI] = 1.23 to 1.31, P = 8.2 x 10(53)). In BRCA2 carriers, the strongest association with BC risk was seen for the overall BC PRS (HR = 1.22, 95% CI = 1.17 to 1.28, P = 7.2 x 10(-20)). The OC PRS was strongly associated with OC risk for both BRCA1 and BRCA2 carriers. These translate to differences in absolute risks (more than 10% in each case) between the top and bottom deciles of the PRS distribution; for example, the OC risk was 6% by age 80 years for BRCA2 carriers at the 10th percentile of the OC PRS compared with 19% risk for those at the 90th percentile of PRS. Conclusions: BC and OC PRS are predictive of cancer risk in BRCA1 and BRCA2 carriers. Incorporation of the PRS into risk prediction models has promise to better inform decisions on cancer risk management

    Age at first birth in women is genetically associated with increased risk of schizophrenia

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    Prof. Paunio on PGC:n jäsenPrevious studies have shown an increased risk for mental health problems in children born to both younger and older parents compared to children of average-aged parents. We previously used a novel design to reveal a latent mechanism of genetic association between schizophrenia and age at first birth in women (AFB). Here, we use independent data from the UK Biobank (N = 38,892) to replicate the finding of an association between predicted genetic risk of schizophrenia and AFB in women, and to estimate the genetic correlation between schizophrenia and AFB in women stratified into younger and older groups. We find evidence for an association between predicted genetic risk of schizophrenia and AFB in women (P-value = 1.12E-05), and we show genetic heterogeneity between younger and older AFB groups (P-value = 3.45E-03). The genetic correlation between schizophrenia and AFB in the younger AFB group is -0.16 (SE = 0.04) while that between schizophrenia and AFB in the older AFB group is 0.14 (SE = 0.08). Our results suggest that early, and perhaps also late, age at first birth in women is associated with increased genetic risk for schizophrenia in the UK Biobank sample. These findings contribute new insights into factors contributing to the complex bio-social risk architecture underpinning the association between parental age and offspring mental health.Peer reviewe

    Models of marine fish biodiversity : assessing predictors from three habitat classification schemes

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    Prioritising biodiversity conservation requires knowledge of where biodiversity occurs. Such knowledge, however, is often lacking. New technologies for collecting biological and physical data coupled with advances in modelling techniques could help address these gaps and facilitate improved management outcomes. Here we examined the utility of environmental data, obtained using different methods, for developing models of both uni- and multivariate biodiversity metrics. We tested which biodiversity metrics could be predicted best and evaluated the performance of predictor variables generated from three types of habitat data: acoustic multibeam sonar imagery, predicted habitat classification, and direct observer habitat classification. We used boosted regression trees (BRT) to model metrics of fish species richness, abundance and biomass, and multivariate regression trees (MRT) to model biomass and abundance of fish functional groups. We compared model performance using different sets of predictors and estimated the relative influence of individual predictors. Models of total species richness and total abundance performed best; those developed for endemic species performed worst. Abundance models performed substantially better than corresponding biomass models. In general, BRT and MRTs developed using predicted habitat classifications performed less well than those using multibeam data. The most influential individual predictor was the abiotic categorical variable from direct observer habitat classification and models that incorporated predictors from direct observer habitat classification consistently outperformed those that did not. Our results show that while remotely sensed data can offer considerable utility for predictive modeling, the addition of direct observer habitat classification data can substantially improve model performance. Thus it appears that there are aspects of marine habitats that are important for modeling metrics of fish biodiversity that are not fully captured by remotely sensed data. As such, the use of remotely sensed data to model biodiversity represents a compromise between model performance and data availability

    The predictive ability of the 313 variant–based polygenic risk score for contralateral breast cancer risk prediction in women of European ancestry with a heterozygous BRCA1 or BRCA2 pathogenic variant

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    Abstract: Purpose: To evaluate the association between a previously published 313 variant–based breast cancer (BC) polygenic risk score (PRS313) and contralateral breast cancer (CBC) risk, in BRCA1 and BRCA2 pathogenic variant heterozygotes. Methods: We included women of European ancestry with a prevalent first primary invasive BC (BRCA1 = 6,591 with 1,402 prevalent CBC cases; BRCA2 = 4,208 with 647 prevalent CBC cases) from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), a large international retrospective series. Cox regression analysis was performed to assess the association between overall and ER-specific PRS313 and CBC risk. Results: For BRCA1 heterozygotes the estrogen receptor (ER)-negative PRS313 showed the largest association with CBC risk, hazard ratio (HR) per SD = 1.12, 95% confidence interval (CI) (1.06–1.18), C-index = 0.53; for BRCA2 heterozygotes, this was the ER-positive PRS313, HR = 1.15, 95% CI (1.07–1.25), C-index = 0.57. Adjusting for family history, age at diagnosis, treatment, or pathological characteristics for the first BC did not change association effect sizes. For women developing first BC < age 40 years, the cumulative PRS313 5th and 95th percentile 10-year CBC risks were 22% and 32% for BRCA1 and 13% and 23% for BRCA2 heterozygotes, respectively. Conclusion: The PRS313 can be used to refine individual CBC risks for BRCA1/2 heterozygotes of European ancestry, however the PRS313 needs to be considered in the context of a multifactorial risk model to evaluate whether it might influence clinical decision-making

    Octomom and Multi-Fetal Pregnancies: Why Federal Legislation Should Require Insurers to Cover In Vitro Fertilization

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    On January 26, 2009, Nadya Suleman, dubbed Octomom by the media, delivered octuplets after using in vitro fertilization. The same day, Congressman Anthony Weiner of New York introduced the Family Building Act of 2009 in the United States House of Representatives—a federal mandate requiring insurers to provide coverage for in vitro fertilization. The octuplets are no longer headline news, but issues associated with in vitro fertilization are still newsworthy. In this paper I propose that Congress should take a serious look at the Family Building Act of 2009. After addressing some additional issues, Congress should pass legislation mandating that insurers provide coverage for in vitro fertilization. Such legislation will have the effect of reducing the number of multi-fetal pregnancies and preterm births, as well as the costs and risks associated with such pregnancies and births. Although in vitro fertilization is used to treat infertility, it has replaced one problem (the inability to procreate) with a more serious problem (multi-fetal pregnancies). This problem exists largely because the fertility industry is not regulated. While the American Society of Reproductive Medicine (ASRM)and the Society for Reproductive Technology (SART) have issued permissive industry guidelines, there is no serious consequence to the physician or clinic that ignores those guidelines. As in vitro fertilization is expensive and largely funded with out-of-pocket monies, patients and their physicians are inclined to transfer more than one embryo for implantation during each cycle of in vitro fertilization. They do so in order to increase the chances of a “successful” pregnancy and maximize a patient’s use of funds. As a result, women who undergo in vitro fertilization often have more than one baby at a time. Moreover, the only federal law that regulates the industry—the Fertility Clinic Success Rate and Certification Act—also encourages multiple embryo transfers by requiring physicians and clinics to report their pregnancy success rates each year. A successful pregnancy is one that results in a live birth—regardless of how many children. This encourages physicians to transfer multiple embryos to increase their chances of a successful pregnancy so that they can attract additional consumers. Because the human uterus is designed to carry only one baby at a time, multi-fetal pregnancies are risky and usually result in preterm babies. The children often have long-term health and other needs. This is a public health concern. The Family Building Act would help regulate the largely unregulated fertility industry. If passed, women and their physicians would be inclined to transfer fewer embryos for implantation during a cycle of in vitro fertilization because an unsuccessful pregnancy would not mean the loss of out-of-pocket dollars. A patient would be more willing to try again if insurance covered the procedure. Furthermore, physician reimbursement rates could be tied to the industry guidelines. A federal mandate requiring insurers to cover in vitro fertilization would strengthen the industry guidelines without a need for an additional regulatory industry. An insurance mandate will reduce the incidence of multi-fetal pregnancies, the largest problem associated with in vitro fertilization, and ultimately increase the incidence of healthy single-baby pregnancies
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