Dr Hambuch has been active in medical genetics for over 15 years. She currently is the global medical director of molecular genetics at Blueprint Genetics and Quest Diagnostics, where she is focused on driving accessible and clinically impactful genetic testing. Tina is focused on ensuring that the tests offered provide the most accurate, clinically relevant genetic test offerings to empower people’s management of their healthcare. This includes a focus on driving best practices and policies, harmonizing these across all Quest/Blueprint offerings, and helping to drive the development and offering of new tests. In addition to overseeing multiple clinical laboratories, Dr Hambuch focuses on ensuring analytical and clinical validity of genetic tests offered for a variety of applications at high throughput. She is actively involved in setting policies for genetic testing standards, privacy, and data management. Prior to joining Quest, Dr Hambuch was the lead clinical laboratory director at Invitae. Before Invitae, she designed and led the implementation of the first laboratory to offer whole genome sequencing as a clinical test at Illumina. Dr Hambuch earned her PhD at UC Berkeley, her bachelor’s degree at UC Riverside, and her medical genetics training at UCLA. Dr Hambuch is board-certified by the American Board of Medical Genetics in clinical molecular genetics, a fellow of the American College of Medical Genetics and Genomics, and a member of the American Society of Human Genetics. Dr Hambuch has authored over 30 publications and serves on multiple advisory groups, including the Scientific and Industry Advisory Board for Genome Canada, Government Affairs committee of ACMG, and advisory boards for CLIAC.

Ian is board-certified in molecular genetics in both the United States (ABMGG) where he lives, and Canada (CCMG) where he was born. He has undergraduate (BMLSc)and graduate (PhD) degrees in pathology from the University of British Columbia, and he is trained in somatic and inherited genetics. Ian is interested in highly scalable operationalization of molecular genetic testing, and he's driven to make it increasingly accessible and increasingly mainstream. In his current role he's working to drive high quality, but scalable testing across Quest Diagnostics and Blueprint Genetics labs in both the United States and Finland.

Tiia Kangas-Kontio is the Senior Genetics Director in the Clinical Interpretation (CI) team. She collaborates with other CI directors, associate laboratory directors, and managers, and leads the maintenance, development, and updates in interpretation processes, reporting policies, and tools. She provides support, guidance, and feedback to relevant topics across the organization and works with her team to ensure competency as well as appropriate tools to perform their work with high quality. She received her MSc degree from University of Turku in 2004 and her PhD in 2011, where she focused on the genetics of cardiovascular disease at the University of Oulu. She worked as a visiting researcher in the Wellcome Sanger Institute, Cambridge, UK, during her post-doctoral studies. She joined Blueprint Genetics in 2015 and has worked as a geneticist and team manager before her current position. During her geneticist days, her focus was in analyzing genetic panels in cardiology, skeletal and metabolic disorders, as well as whole exome.

Dr Karbassi is the Senior Director of the Quest Diagnostics Variant Science Team supporting genetic testing within Specialty Genetics, Oncology, Consumer Health, and Women’s Health, and specializes in exome sequencing interpretation. She completed a Clinical Molecular Genetics Fellowship at Harvard Medical School/Boston Children’s Hospital and has received her American Board of Medical Genetics and Genomics (ABMGG) certification. Dr Karbassi also completed a postdoctoral fellowship at University of Massachusetts, where she studied human papillomavirus (HPV) replication. She earned a BA from Boston University in Molecular Biology and Biochemistry, a MS from University of Rochester School of Medicine and Dentistry in Microbiology and Virology, and PhD from Eastern Virginia Medical School/Old Dominion University in Clinical Proteomics focusing on cancer biomarker discovery via mass spectrometry platforms. Dr Karbassi actively participates in ClinGen committees/work groups including the Rett/Angelman-like Variant Curation Expert Panel (VCEP) as well as the Sequence Variant Interpretation (SVI) Working Group,and is on the committee of American College of Medical Genetics (ACMG)/ClinGen/Association of Medical Pathology (AMP)/College of American Pathologists (CAP) for updating standards for classifying sequence variants.

Lotta Koskinen is an associate laboratory director with a focus on production and scientific activities. She collaborates with laboratory and genetics directors, and managers and leads in maintaining and developing variant assessment and reporting processes. She also helps to plan and introduce new products. She also coordinates scientific support for Clinical Genomic Services (CGS) and Client Services in their questions related interpretation and reports. Lotta has MSc degree in genetics and received her PhD in medical genetics from the University of Helsinki, Finland in 2009. After post-doctoral training in academic genetics laboratories, she joined Blueprint Genetics in 2017. Prior to her current position, she worked as a geneticist in panel and WES interpretation, and as a manager in the Clinical Interpretation Team at Blueprint Genetics.

Sari Tuupanen is the Director of Genetics in the Clinical Interpretation (CI) team at Blueprint Genetics. She works closely with other CI directors, associate laboratory directors, and managers, and leads in maintaining and developing high-quality clinical interpretation processes, reporting policies, and interpretation tools. She oversees the CI process and supports the sign-out team to ensure high-quality clinical reports. She has an MSc in human genetics and received her PhD in cancer genetics from the University of Helsinki in 2009. She has experience in working with both research and clinical laboratories. She joined Blueprint Genetics in 2015 to work as a geneticist. She has extensive knowledge in both panel (primary focus ophthalmology) and exome interpretation and in her previous position she worked as a team manager in the Opthalmology Interpretation Team.

Eija Seppälä is the Associate Laboratory Director focusing on quality-related issues. She works closely with laboratory directors, associate laboratory directors, CI directors, and managers. She also takes the lead to maintain, develop, and update interpretation processes, reporting policies, instructions, and tools. She oversees batch and sample level quality steps and proficiency testing. She received her PhD in the genetics of prostate cancer from the University of Tampere in 2006 and worked as a post-doctoral researcher in Canine Genetics Research Group in the University of Helsinki for several years. She joined Blueprint Genetics in 2014 and has been involved in creating the QMS documentation for our Clinical Interpretation Team from the beginning.

Kati Kämpjärvi is the Senior Manager, Variant Science, in the Clinical Interpretation (CI) Team. She collaborates with CI directors, associate laboratory directors, and managers, and takes the leads to maintain and develop high-quality-clinical interpretation processes, reporting policies, and tools. She oversees the CI production process and supports the Genomic Variant Science Team to ensure high-quality variant curation and clinical interpretation of the genetic data. She also works in a Genetic Liaison role, supporting Client Services and Clinical Genomic Services (CGS) teams with requests concerning clinical interpretation. Kati received her PhD in tumor genetics from the University of Helsinki in 2016 and has experience working in both research and clinical laboratory settings. She joined Blueprint Genetics in 2017 and has worked as a geneticist and team lead before her current position. As a geneticist her primary focus was in analyzing genetic panels in ophthalmology.

Raveen Basran is Senior Director of Genetics and leads the Genetics Director Teams for Blueprint Genetics and Athena Diagnostics. She is board certified in Molecular Genetics and a Fellow of the American College of Medical Genetics and Genomics and the Canadian College of Medical Geneticists. She received her graduate degrees from the University of Oxford. Raveen has worked in both academic and commercial genetics laboratories and is passionate about providing high quality genetic testing across communities.

Michelle Paczosa is the Genomic Variant Science Manager of the Quest Variant Science Team supporting US Blueprint Genetics testing. She initially joined Quest Diagnostics as a variant scientist after earning her PhD in Immunology at Tufts University Graduate School of Biomedical Sciences, MA. She actively participates in ClinGen as a volunteer biocurator, including for the Antibody Deficiencies Gene Curation Expert Panel and Primary Immune Regulatory Disorders Gene Curation Expert Panel. She supports all efforts to provide high-quality variant classifications and genetic testing reports to patients.

Meena Mahey Kumar is the Senior Director of Clinical Genomics and supports the Clinical Genomics Services (CGS) team at Blueprint Genetics. She is actively volunteers in the Quest Inclusion and Diversity Council. She is board certified in genetic counseling by the American Board of Genetic Counseling and earned her Master of science in Human Genetics from Sarah Lawrence College, NY. She is passionate about genomics in patient-centered healthcare and diversity in genomics. She supports efforts to make high-quality genetic diagnostics accessible across the world and works to add continuously to the knowledge and conversation in genomics. Meena has worked in a pediatric, adult, and prenatal genetics clinic setting before working in commercial genetics laboratories leading, sales and marketing, and clinical genomics services initiatives. She believes in strong partnerships between clinic and lab for best patient outcomes.

Kim Gall is the Senior Manager of Clinical Genomic Services at Blueprint Genetics. She leads a team of genetic counselors that provides support to Blueprint Genetics clients, and is involved in many relevant initiatives and projects throughout the organization. She supports efforts to provide transparent and high-quality genetic testing to a diverse global community and works to improve genetic literacy in healthcare providers and patients. She earned her MSc in genetic counseling from the University of British Columbia, and is a board-certified genetic counselor by the American Board of Genetic Counseling. She has years of experience working in both clinical and laboratory settings, including both hospital and commercial diagnostics.