Karen V. MacDonald

What are people willing to pay for whole-genome sequencing information, and who decides what they receive?:

Purpose:Whole-genome sequencing (WGS) can be used as a powerful diagnostic tool as well as for screening, but it may lead to anxiety, unnecessary testing, and overtreatment. Current guidelines suggest reporting clinically actionable secondary findings when diagnostic testing is performed. We examined preferences for receiving WGS results.Methods:A US nationally representative survey (n = 410 adults) was used to rank preferences for who decides (an expert panel, your doctor, you) which WGS results are reported. We estimated the value of information about variants with varying levels of clinical usefulness by using willingness to pay contingent valuation questions.Results:The results were as follows: 43% preferred to decide themselves what information is included in the WGS report. 38% (95% confidence interval (CI): 33–43%) would not pay for actionable variants, and 3% (95% CI: 1–5%) would pay more than

Estimating the Burden of Osteoarthritis to Plan for the Future

1,000. 55% (95% CI: 50–60%) would not pay for variants for which medical treatment is currently unclear, and 7% (95% CI: 5–9%) would pay more than

How do women trade-off benefits and risks in chemotherapy treatment decisions based on gene expression profiling for early-stage breast cancer? A discrete choice experiment

400.Conclusion:Most people prefer to decide what WGS results are reported. Despite valuing actionable information more, some respondents perceive that genetic information could negatively impact them. Preference heterogeneity for WGS information should be considered in the development of policies, particularly to integrate patient preferences with personalized medicine and shared decision making.Genet Med 18 12, 1295–1302.

Estimating Preferences for Complex Health Technologies: Lessons Learned and Implications for Personalized Medicine

With aging and obesity trends, the incidence and prevalence of osteoarthritis (OA) is expected to rise in Canada, increasing the demand for health resources. Resource planning to meet this increasing need requires estimates of the anticipated number of OA patients. Using administrative data from Alberta, we estimated OA incidence and prevalence rates and examined their sensitivity to alternative case definitions.

Corrigendum: What are people willing to pay for whole-genome sequencing information, and who decides what they receive?

Objectives Gene expression profiling (GEP) of tumours informs baseline risk prediction, potentially affecting adjuvant chemotherapy decisions for women with early-stage breast cancer. Since only 15% will experience a recurrence, concerns have been raised about potential harms from overtreatment and high GEP costs in publicly funded healthcare systems. We aimed to estimate preferences and personal utility of GEP testing information and benefit–risk trade-offs in chemotherapy treatment decisions. Design, setting and intervention Based on literature review and findings from our qualitative research (focus groups, interviews with patients with breast cancer and medical oncologists), we developed a discrete choice experiment (DCE) survey and administered it via an internet panel. The DCE included 12 choice tasks with 5 attributes and 3 alternatives considering orthogonality, D-efficiency and level balance. Participants The DCE survey was administered to 1004 Canadian women from the general population. Main outcome measures Preferences were analysed using conditional logit and hierarchical Bayes and evaluated for goodness of fit. We conducted simulation analyses for alternative scenarios. Results GEP test score indicating likely benefit from chemotherapy was the most important attribute. Doctors clinical estimate of the risk of cancer returning, trust in your cancer doctor and side effects of chemotherapy (temporary and permanent) were relatively less important but showed significant differences among levels. In the scenario analyses, 78% were likely to choose chemotherapy in a high-risk scenario, 55% in a moderate-risk scenario and 33% in a low-risk scenario, with the other attributes held constant. A high GEP score was more important in influencing the choice of chemotherapy for those at intermediate clinical risk. Conclusions GEP testing information influences chemotherapy treatment decisions in early-stage breast cancer and varies depending on clinical risk. Clinicians should be aware of these differences and tailor the use of GEP testing accordingly.

Direct health-care costs for children diagnosed with genetic diseases are significantly higher than for children with other chronic diseases

We examine key study design challenges of using stated-preference methods to estimate the value of whole-genome sequencing (WGS) as a specific example of genomic testing. Assessing the value of WGS is complex because WGS provides multiple findings, some of which can be incidental in nature and unrelated to the specific health concerns that motivated the test. In addition, WGS results can include actionable findings (variants considered to be clinically useful and can be acted on), findings for which evidence for best clinical action is not available (variants considered clinically valid but do not meet as high of a standard for clinical usefulness), and findings of unknown significance. We consider three key challenges encountered in designing our national study on the value of WGS-layers of uncertainty, potential downstream consequences with endogenous aspects, and both positive and negative utility associated with testing information-and potential solutions as strategies to address these challenges. We conceptualized the decision to acquire WGS information as a series of sequential choices that are resolved separately. To determine the value of WGS information at the initial decision to undergo WGS, we used contingent valuation questions, and to elicit respondent preferences for reducing risks of health problems and the consequences of taking the steps to reduce these risks, we used a discrete-choice experiment. We conclude by considering the implications for evaluating the value of other complex health technologies that involve multiple forms of uncertainty.

The price of whole-genome sequencing may be decreasing, but who will be sequenced?

This corrects the article DOI: 10.1038/gim.2016.61

Symptom onset, diagnosis and management of osteoarthritis.

PurposeWe aimed to estimate direct health-care costs and physician utilization for a cohort of children diagnosed with genetic diseases.MethodsRetrospective cohort study using population-based provincial health administrative data for children with genetic diseases (n = 255) compared with three matched cohorts (asthma n = 1275, diabetes n = 255, general population n = 1275). We estimated direct health-care costs and resource use 5 years after diagnosis in five categories: physician billing, same day surgery, emergency, inpatient hospitalizations, and home care.ResultsDuring the postdiagnostic period, annual mean total costs for the genetic disease cohort were significantly higher than all other cohorts. Annual mean total costs for all cohorts were highest in the year after diagnosis with costs for the genetic disease cohort between 4.54 and 19.76 times higher during the 5 years. Inpatient hospitalizations and physician billing accounted for the majority of costs. The genetic disease cohort received more care from specialists, whereas the chronic disease cohorts received more care from general practitioners.ConclusionDirect health-care costs for children with genetic diseases are significantly higher than children with/without a chronic disease, particularly in the year after diagnosis. These findings are important when considering resource allocation and funding prioritization for children with genetic diseases.

Consumer familiarity, perspectives and expected value of personalized medicine with a focus on applications in oncology.

AIM Since whole-genome sequencing (WGS) information can have positive and negative personal utility for individuals, we examined predictors of willingness to pay (WTP) for WGS. PATIENTS & METHODS We surveyed two independent populations: adult patients (n = 203) and college seniors (n = 980). Ordinal logistic regression models were used to characterize the relationship between predictors and WTP. RESULTS Sex, age, education, income, genomic knowledge and knowing someone who had genetic testing or having had genetic testing done personally were associated with significantly higher WTP for WGS. After controlling for income and education, males were willing to pay more for WGS than females. CONCLUSION Differences in WTP may impact equity, coverage, affordability and access, and should be anticipated by public dialog about related health policy.