How To Make A Million (Mdd Cases) – The Australian Contribution

How To Make A Million (Mdd Cases) – The Australian Contribution

Abstracts S761 USING TECHNOLOGY TO QUANTIFY THE PHENOMICS OF DEPRESSION Menachem Fromer n Verily Life Sciences establish study eligibility and de...

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establish study eligibility and determine MDD subphenotypes. Selection biases inherent in the two recruitment methods, and differences in participant eligibility/ retention rates and MDD sub-phenotype distribution between the two resulting cohorts, demonstrate the effect of recruitment methods on the potential success of largesample recruitment for GWAS for psychiatric traits.

Abstract Genetic and other studies over the past decades have made it clear that it may be productive for both the diagnosis and treatment of depression if disease manifestation were to be described in multiple dimensions rather than by classical categories. As global smartphone usage has skyrocketed, one natural approach to improved phenotyping that can be deployed at scale is using smartphone-based apps to capture behavioral information from consented users. In particular, using such digital phenotyping techniques with a focus on passively-collected data can potentially inform on an individual's mood, sleep quality, physical activity, cognitive function, and both digital and in-person social activities. Tracking these over time can look at, e.g., the circadian rhythms of these clinically relevant behaviors, and more generally give insights into the longitudinal trajectories preceding and during depressive episodes. These technologies also have the potential to assist researchers in collecting large-scale behavior-rich phenotype datasets while keeping patients engaged over the course of the study process, for example, in the pursuit of recruiting 1 million patients with depression for genotypephenotype association.

Disclosure Verily Life Sciences - Employee, Self


Nick Martin

Queensland Institute of Medical Research Abstract More may be better in GWAS, but ensuring you have more of what you actually want is critical for success. In Australia, we have launched a study titled “Genetics of risk and response to treatment of depression”. Study recruitment was via two separate entry pathways. The first recruitment method used records of Australian Government-subsidised prescriptions to identify prospective participants with a recent history of being prescribed antidepressant medication. The second method used a large-scale coordinated appeal via broadcast, print and online media to engage interest from members of the public who have been treated for clinical depression. Both cohorts completed the same extensive online questionnaire to

Disclosure Nothing to disclose.



University of North Carolina Abstract We began the Genomic Aggregation Project in Sweden (GAPS) in 4/2016. Genomic data existed on 4200K Swedes, and to leverage the investments that made these data, aggregating these data is an obvious first step. We have formed a consortium, recruited investigators from across Sweden, worked out the ethical-regulatory framework, and set up a processing pipeline. GAPS now has 14 case-control and 7 cohort studies with N= 154,047 with existing genomewide SNP data: most of the data have been through a local implementation of the PGC pipeline and are analysis-ready. We will soon add specialty arrays (N =89,727), whole exome (N = 19,802), and whole genome sequencing (N = 6,150). One of the first phenotypes to be analyzed will be Major Depressive Disorder (MDD). We estimate that there are 20K cases of MDD now in GAPS (as many GAPS cohorts are psychiatric). Sweden has universal health care, and all subjects have a complete vector of inpatient discharge diagnoses, outpatient specialist treatment, and pharmacy records. Following imputation to a Sweden-specific reference, we will conduct common & rare variant association tests, incorporate external results, and create a novel MDD severity index (yearly sick leave and income) for case stratification. We will attempt to identify predictors of long-term outcome at first presentation, with the possibility of validation in Denmark and Norway.

Disclosures Pfizer – Advisory Board, Self Roche – Honoraria, Self Lundbeck – Consultant, Self 23andMe – Consultant, Self Shire – Consultant, Spouse