National Society of Genetic Counselors Health IT Resources Repository

Version 2017.1

NSGC Health IT SIG Chairs (2016-2018): Megan Frone, MS, CGC Willonie Mendonca, MS, CGC

NSGC Health IT Resources Repository Project Team: Caiqian Cropper, MS, CGC Deanna Erwin, MS, CGC Ellen Matloff, MS, CGC Karen Vikstrom, MS, CGC The National Society of Genetic Counselors (NSGC) Health IT Resources Repository is intended to act as a reference guide for medical professionals interested in utilizing information technology applications to facilitate their day-to-day clinical or other genetics- related duties. Resources are organized both by utility as well as by subspecialty. The Health IT SIG Chairs and the Resources Repository Project Team make no claim regarding the accuracy of the information presented. As these resources are constantly evolving since being compiled in May, 2017, users are encouraged to verify details of each tool directly with the distributor/creator.

Please direct any feedback, suggestions for resources and/or questions to the Health IT Resources Repository Project Lead, Caiqian Cropper at [email protected]. Table of Contents

Clinical Process and Access Tools…….……………………………………………………………….…………….…………….……………..….….……..Page 1 Electronic genetics clinic management tools used across disciplines, including family history tools, communications, document management, and computer access tools.

Collaboration Tools……………………………………….…..………………….…………….…………….…………….…………….…………….…………...Page 3 Tools for facilitating collaboration, including set meetings, arrange schedules, and host webinars.

Laboratory and Interpretation Tools……….……………………….…………….…………….…………….…………….…………….…………..…….Page 4 Variant annotation, disease databases, frequency databases, and other tools for interpretation of molecular testing.

Medical Genetics (Adult and Pediatric) Tools……………….…………….…………….…………….…………….…………….…………………….Page 7 Resources relevant to a general genetics practice for adults or for children.

Cancer Genetics Tools…………………..……………….…………….…………….…………….…………….…………….……………..…………………….Page 9 Resources relevant to a cancer genetics practice including clinic management, risk assessment, cancer-specific databases, and patient resources.

Prenatal Genetics Tools…………………………….….…………….…………….…………….…………….…………….…………….…………………….Page 12 Resources relevant to a preconception or prenatal practice including pregnancy wheels, risk calculators, and resources pertaining to cytogenetics, counseling, and teratogens.

Cardiovascular Genetics Tools……………………………………………………………………………………………………………..……...….……….Page 13 Resources relevant to a cardiovascular genetics practice such as risk calculators and patient-facing material.

Educational and Reference Tools……………………………………………………………………………………………………………………….…….Page 14 Genetics education and references tools.

Process and Access Tools

Resource HIPAA Affliation Description Link / Access Pricing Compliance

ACCESS Cisco AnyConnect Yes Cisco Secure video teleconferencing http://www.cisco.com/c/en/us/products/securit Paid y/anyconnect-secure-mobility-client/

GoToMyPC Yes Citrix Access your Mac or PC from anywhere https://get.gotomypc.com/ Paid Remote Desktop Yes Microsoft Allows remote access to hospital network https://www.microsoft.com/en- Free us/store/p/microsoft-remote- desktop/9wzdncrfj3ps TeamViewer Yes TeamViewer Allows remote access to another computer https://www.teamviewer.com/en/ Free/Paid

COMMUNICATIONS Cisco Registered Yes Cisco Allows sending of encrypted email https://res.cisco.com/websafe/about Paid Envelope Service DemandForce Yes DemandForcec Automated reminder scheduler http://www.demandforce.com/ Paid eFax Yes j2 Global, Inc. Electronic faxing system https://www.efax.com/ Paid Filemaker Yes Apple Create custom apps across platforms http://www.filemaker.com/ Paid LexiGene N/A CAGC-ACCG English-French Genetic Counselling Lexicon http://www.lexigene.com/en/ Free PhoneTree Yes Personal Communication Automated notification and reminder system https://www.phonetree.com/ Paid Systems, Inc.

RightFax Yes Open Text Electronic faxing system http://www.opentext.com/what-we- Paid do/products/business-network/fax- solutions/rightfax SalesForce Yes SalesForce Cloud based system to manage your business https://www.salesforce.com/ Paid Scrypt Yes Scrypt Inc Electronic faxing system https://www.scrypt.com/ Paid TRACE Yes Vyne Medical Fax/order tracking software http://www.tracecommunication.com/ Paid

DOCUMENTATION MANAGEMENT Adobe Acrobat Yes Adobe Program to manipulate PDFs - pre-filling, creating forms, e-signing https://get.adobe.com/reader/ Paid

Adobe Sign Yes Adobe Obtain electronic signatures https://acrobat.adobe.com/us/en/sign.html Paid

Florence eBinders Yes Florence eBinder Organize, edit, share, and store documents electronically http://florencehc.com/ebindersuite-trialsites/ Paid

Venny No BioinfoGP, CNB-CSIC Venn diagram creation tool http://bioinfogp.cnb.csic.es/tools/venny/ Free VMWare Yes VMWare Cloud based networking, managing, and storage tool http://www.vmware.com/ Paid PDFMerge! Unknown n/a Merge PDFs. http://www.pdfmerge.com Free

Clinical Process & Access Tools, Page 1 Page 1

Resource HIPAA Affliation Description Link / Access Pricing Compliance

CLINIC FLOW ActX Yes ActX Precision Medicine EMR https://www.actx.com/ Paid TrakGene Yes TrakGene Genetics-specific EMR; customizable report; store charts on secure http://www.trakgene.com/ Paid drive SimulConsult Unknown SimulConsult Information about genetic disorders, differential diagnosis, and www.simulconsult.com Paid letters of medical necessity GeneConnect Unknown Concert Search, compare and order genetic tests within the US. https://app.concertgenetics.com/#/ Paid GeneInsight Clinic Unknown Sunquest Enables delivery of future variant updates to clinicians. http://www.geneinsight.com/clinic/ Paid

PEDIGREE & FAMILY HISTORY f-tree Unknown Iwate Medical University Medical pedigree creation based on family history questionnaire. http://www.holonic-systems.com/f- Free/Paid & Holonic Systems Ltd. tree/en/index.html

Family History Tool Yes Invitae Build, modify, share and save patient pedigrees. https://www.invitae.com/en/familyhistory/ Free

MeTree Duke University Duke University of Patient oriented pedigree collection tool and risk calculator https://precisionmedicine.duke.edu/researchers Free Medicine /precision-medicine-programs/risk- assessment/family-history/metree-software

My Family Health Yes NIH Save, track, share family history online. https://familyhistory.hhs.gov/FHH/html/index.h Free Portrait tml Myriad Family History Yes Myriad Genetics Identifies at-risk patients, generates pedigree. https://fht.myriad.com/app/#/proband Free Tool Proband Unknown CHOP iPad app creates patient pedigree during clinical encounter. https://probandapp.com Free Progeny Yes Ambry Genetics Risk modeling and pedigree software for clinicians http://www.progenygenetics.com/ Free/Paid Zibdy Health Yes Zibdy Inc. Platform for storing and sharing health data. http://www.zibdy.com/ Free

Clinical Process & Access Tools, Page 2 Page 2

Collaboration Tools

Resource HIPAA Affiliation Description Link / Access Pricing Compliance

CONFERENCING TOOLS BlueJeans Yes BlueJeans Video teleconferencing https://www.bluejeans.com/ Paid Network Go To Meeting Yes Citrix Video teleconferencing https://www.gotomeeting.com/ Paid Google Hangouts No Google Online chat, photo-sharing, and group video calls https://hangouts.google.com/ Free

Jabber Yes Cisco Video teleconferencing http://cisco.com/web/products/voice/jabber Paid .html Skype for Unknown Microsoft Office365 platform for instant messaging and audio/video conferencing https://products.office.com/en-us/skype-for- Paid Business business/online-meetings

VSee Yes Stanford Video teleconferencing vsee.com Paid University WebEx No Cisco Offers online meetings, town halls, webinars, courses/training and https://www.webex.com/ Paid presentations Zoom Yes Zoom Video teleconferencing https://zoom.us/ Free

COLLABORATION TOOLS AltaVoice Yes Invitae Connects rare disease patient communities with researchers/companies https://www.altavoice.com/ Free for treatment Asana No Asana Web app to manage and sync to-do lists across a team https://asana.com/ Free/Paid DropBox No DropBox File hosting service offering cloud stoage https://dropbox.com Free/Paid eMerge Unknown Vanderbuilt National network combining DNA biorepositories with EMR systems for https://emerge.mc.vanderbilt.edu/ Free large-scale research. GeneMatcher Unknown GeneMatcher Collobration tool for clinicians and researchers based on genes https://genematcher.org/ Free GenoMet Yes GenoMet Clinical genetics collaboration for medical professionals. http://genomet.com/ Free Google Forms Yes Google Survey creation and analyzation tool https://www.google.com/forms/about/ Free

Google Sheets Yes Google Cloud-based tool for creating spreadsheets https://www.google.com/sheets/about/ Free

Slack No Slack Cloud-based collaboration tool that includes messaging, archiving and https://slack.com/ Free/Paid search

SCHEDULING TOOLS Calendly No Calendly Calendar/scheduling tool https://calendly.com/ Paid Doodle No Doodle Web-based scheduling tool http://doodle.com/ Free ScheduleOnce No ScheduleOnce Meeting and appointment scheduling software http://scheduleonce.com/ Paid

Collaboration Tools, Page 3

Laboratory and Interpretation Tools

Resource Affiliation Description Link / Access Pricing

GENETIC VARIANT DATABASES ARUP Mutation Databases University of Utah Human gene variant-disease database with clinical information http://www.arup.utah.edu/database/index.ph Free p ClinGen NIH Defines clinical relevance of genes and variants for precision https://www.clinicalgenome.org/ Free medicine and research. dbGaP NCBI Archives and distributes data from genotype-phenotype https://www.ncbi.nlm.nih.gov/gap Free correlation studies. dbSNP NCBI Public-domain archive for a broad collection of simple genetic https://www.ncbi.nlm.nih.gov/projects/SNP/ Free polymorphisms. EmVClass Emory University Human gene variant-disease database observed in clinical http://geneticslab.emory.edu/emvclass/emvcl Free cases. ass.php Gene Set Enrichment Analysis UC San Diego Computational method to evaulate genotype and phenotype http://software.broadinstitute.org/gsea/msig Free db/index.jsp HGMD Institute of Medical Collates published genetic variants responsible for human http://www.hgmd.cf.ac.uk/ac/index.php Free/Paid Genetics in Cardiff inherited disease. Illumina my Genome App Illumina View and explore genomic data and variation in the human Apple App Store Free genome. LOVD Leiden University Medical Gene-centered collection and display of DNA variations. http://www.lovd.nl/2.0/index_list.php Free Center NCBI ClinVar NCBI Aggregates information about genomic variation and its https://www.ncbi.nlm.nih.gov/clinvar/ Free relationship to human health. The Universal Mutation Database Aix Marseille Universite Database of mutations in human genes associated with genetic http://www.umd.be/ Free (UMD) diseases.

VARIANT ANNOTATION & CLASSIFICATION TOOLS Alamut Batch Interactive Biosoftware High-throughput annotation software for NGS analysis. http://www.interactive- Paid biosoftware.com/alamut-batch/ Alamut Focus Interactive Biosoftware Interactive variant filtration application for NGS analysis. http://www.interactive- Paid biosoftware.com/alamut-focus/ Alamut Visual Interactive Biosoftware Decision-support software that uses HGVS nomenclature and http://www.interactive- Paid helps interpret variants. biosoftware.com/alamut-visual/ Clinical Interpretations of Variants in Supported by Illumina Collaborative, open source tool for clinical interpretation of https://civic.genome.wustl.edu/#/home Free Cancer VUS in cancer. ExPASy Swiss Institute of Bioinformatics resource portal providing access to databases https://www.expasy.org/ Free Bioinformatics and softwares relevant to life sciences. Galaxy NSF, NHGRI, JH, Penn Abstract and manipulate SNP data from UCSC Genome https://usegalaxy.org Free State, Huck Institutes Browser.

Laboratory & Interpretation Tools, Page 4

Resource Affiliation Description Link / Access Pricing

GeneInsight Lab Sunquest Tool for variant annotation, filtration, knowledge management, http://www.geneinsight.com/lab/ Paid and report generation. GeneInsight VariantWire Sunquest Networking infrastructure that enables transfer of structured http://www.geneinsight.com/network/ Paid genetic data between and among laboratories and clinicians.

Genomic Oligoarray and SNP array University of Oklahoma SNP array evaluation and regions of homozygosity tool http://firefly.ccs.miami.edu/cgi- Free evaluation tool v3.0 bin/ROH/ROH_analysis_tool.cgi Genetic Variant Interpretation Tool University of Maryland Openly-available online tool to efficiently classify variants. http://www.medschool.umaryland.edu/Genet Free ic_Variant_Interpretation_Tool1.html/

Human Splicing Finder Aix Marseille Universite Predicts pre-mRNA splicing effects of genetic variants. http://www.umd.be/HSF3/ Free

MetaSV Roche Integrative structural-variant caller for next generation http://bioinform.github.io/metasv/ Free sequencing. Mutalyzer Leids Universitair Medisch Checks nomenclature and converts position of sequence https://mutalyzer.nl Free Centrum variants. Mutation Taster Charité – Web tool that predicts the effects of genetic changes. http://www.mutationtaster.org/ Free Universitätsmedizin Berlin

NNSPLICE UC Berkeley Predicts splicing effects of gentic variants. http://www.fruitfly.org/seq_tools/splice.html

PolyPhen-2 Harvard Predicts possible impact of amino acid substitutions on http://genetics.bwh.harvard.edu/pph2/ Free structure and function of proteins. REVEL MSSM, Stanford Ensemble method for predicting the pathogenicity of missense https://sites.google.com/site/revelgenomics/ Free variants based on a combination of scores. SIFT J. Craig Venter Institute Predicts whether an amino acid substitution affects protein http://sift.jcvi.org/ Free function based on conservation. SwissVar Swiss Institute of A portal to search variants in Swiss-Prot entries of the UniProt http://swissvar.expasy.org/ Free Bioinformatics knowledge base. VarSome SAPHETOR A genomic variant search engine for variant and gene https://varsome.com/ Free annotation information.

GENOME DATABASES 1000 Genomes EMBL-EBI Public catalogue of human variation and genotype data. http://www.internationalgenome.org/data Free

BLAST/BLAT search genome University of California A very fast sequence alignment tool for Human GRCh37. http://www.ensembl.org/Multi/Tools/Blast?d Free Santa Cruz b=core ExAC Genome Browser Broad Institute Healthy population dataset for population genetics studies. http://exac.broadinstitute.org/ Free

GeneWall WobbleBase Inc. Genome browser for mobile devices. Apple App Store Free

Laboratory & Interpretation Tools, Page 5

Resource Affiliation Description Link / Access Pricing

GNomad Broad Institute Aggregates and summarizes data from exome/genome http://gnomad.broadinstitute.org/ Free sequence projects. HumanGenome Florence Haseltine Presents and discovers known relationships between genes, Apple App Store Free diseases, syndromes and/or traits. NHLBI Exome Sequencing Project U Washington Includes data from exomes performed on unrelated subjects. http://evs.gs.washington.edu/EVS/ Free

UCSC Genome Browser UC Santa Cruz Interactively visualize genomic data. https://genome.ucsc.edu/cgi-bin/hgGateway Free

PROTEIN DATABASES Amino Acid Reference Tools Mindswell LLC Reference and learning tool for amino acids. Apple App Store Paid Ensembl European Bioinformatics Genome browser especially useful for transcripts. http://www.ensembl.org/Homo_sapiens/Info Free Institute /Index

UniProt UniProt Consortium Collection of protein sequence and functional information in http://www.uniprot.org/ Free humans and animals.

Laboratory & Interpretation Tools, Page 6

Pediatric and Adult Medical Genetics Tools

Resource Affiliation Description Link / Access Pricing

DYSMORPHOLOGY Decipher Welcome Trust A clinical tool to aid in the interpretation of phenotypic and genotypic data. https://decipher.sanger.ac.uk/ Free

Face2Gene FDNA A suite of phenotyping apps that facilitates comprehensive and precise genetic http://www.fdna.com Free evaluations. POSSUMweb Murdoch Children's A database with information on over 4000 syndromes and links to over 30,000 www.possum.net.au Paid Research Institute images

GENE SPECIFIC DATABASE CFTR2 Johns Hopkins, Variant-specific information on mutations in CFTR for providers and patients. http://www.cftr2.org/ Free Sequenom Cystic Fibrosis Mutation The Hospital for Sick Collection of mutations in the CFTR gene http://www.genet.sickkids.on.ca/Home. Free Database Children html Developmental Brain University of Rochester Database of diagnostic evaluations of children with neurodevelopmental https://www.dbdb.urmc.rochester.edu/ Free Disorders Database disorders home HbVar Penn State University A database of Human hemoglobin variants and thalassemias http://globin.bx.psu.edu/cgi- Free bin/hbvar/query_vars3 PAH db McGill University A knowledge base about mutations at the phenylalanine hydroxylase locus. www.pahdb.mcgill.ca Free

RESEARCH/TRIALS Clinical Trials (NIH) NIH Registry and results database of publicly and privately supported clinical studies https://clinicaltrials.gov/ Free of human participants Clinical Trials Dory TrialX A “personal clinical trial navigator” helps connect to clinical trials in close https://dory.trialx.com/ask/ Free proximity Undiagnosed Disease NIH National research study funded by the NIH to solve the most challenging medical udnconnect.org Free Network mysteries

RISK CALCULATORS Medicine ToolKit Harvard University Built-in Bayes calculator and teaching articles with focus on internal medicine Apple App Store Paid topics. Pediatric Growth Charts Boston Children's Track childrens' growth over time and display the data. Apple App Store Free

Med Genetics (Peds & Adults) Tools, Page 7

Resource Affiliation Description Link / Access Pricing

PATIENT ORIENTED RESOURCES My Gene Counsel My Gene Counsel Links current, updating, evidence-based information to genetic test results. http://www.mygenecounsel.com/ Free

MyGene2 University of Families with rare genetic conditions can share and connect with other families, https://mygene2.org/MyGene2/ Free Washington; Open clinicians, and researchers. Science Prize Portable Genomics Portable Genomics Facilitates the private collection of patient genotype and phenotype data. http://portablegenomics.com/ Free

ThinkGenetic, Inc. Emory University Genetic disease database and interactive platform that allows patients to ask https://www.thinkgenetic.com/ Free questions or enter disease symptoms. ZibdyHealth Zibdy Inc. Consolidates medical records, tracks medications/vital signs, and collects http://www.zibdy.com/ Free family/health history

Med Genetics (Peds & Adults) Tools, Page 8

Cancer Genetics Tools

Resource Affiliation Description Link / Access Pricing

CLINIC MANAGEMENT ARIA Med Onc/Rad onc EMR Varian medical Oncology-specific electronic medical record https://www.varian.com/oncology/products/softwa Paid systems re/information-systems/aria-ois-radiation-oncology

CaGene Connect UT Southwestern Gathers history, runs risk assessment models, draws pedigrees, generates http://cagene.com/ Paid reports, and stores in a cloud database. CancerIQ CancerIQ Genetic risk assessment and pedigree tool allowing for survey collection, http://www.canceriq.com/ Paid documentation, test ordering, and patient contact. CRA Risk Assessment CRA Health Our cloud-based system which includes risk factor analysis and scoring to https://www.crahealth.com/risk-assessment- Paid Platform provider documentation and notification. platform/

PATIENT SPECIFIC RESOURCES B-RST™ Emory University Screening tool for strong genetic (hereditary) risk for breast and ovarian https://www.breastcancergenescreen.org/public.as Free cancer based on family history. px BRCA Decision Tool Stanford University Decision support tool to guide management of cancer risks from BRCA. http://brcatool.stanford.edu/ Free

Breast Screening Decisions Weill Cornell Mammogram decision aid for women ages 40-49 that assesses personal http://breastscreeningdecisions.org/ Free Medical College risk of breast cancer. Colonoscopy Helper Los Angeles Smartphone app that provides guidance for colonoscopy preparation. Google Play Free Endoscopy Center ePrognosis UCSF and Harvard Decision tool for breast and/or colorectal screening. Apple App Store Free

Find My Variant U of Washington Research on VUS helping families understand unique genetic variants. http://findmyvariant.org/ Free

Health Owl Mount Sinai School Tailored screening recommendations, cancer facts, and screening Apple App Store Free of Medicine reminders based on family history and demographics.

Kintalk UCSF Educational and family communication site for individuals and families with http://kintalk.org/ Free hereditary cancer. Know BRCA CDC & Bright Pink Resource developed to help women understand their risks for having BRCA https://www.knowbrca.org/ Free gene mutations. PROMPT Penn, Mayo, DFCI, Research registry for people who have had multi-gene panels. https://connect.patientcrossroads.org/?org=promp Free MSK t SNAP BRCA Ascension Health Helps women with a BRCA mutation keep track of their cancer surveillance. Apple App Store Free

Spero for Cancer Spero A mobile community for people affected by cancer. Apple App Store Free

Cancer Genetics Tools, Page 9

Resource Affiliation Description Link / Access Pricing

RISK ASSESSMENT Ask2Me Dana Farber/ Provides approximation of the risk of cancers over time for various http://www.ask2me.org/ Free Hughes Lab hereditary cancer susceptibility genes. BOADICEA University of Calculates risks of breast and ovarian cancer & risk for BRCA mutations in http://ccge.medschl.cam.ac.uk/boadicea/ Free Cambridge women based on their family history. BRCAPRO Harvard University Calculator to predict risk of carrying a mutation in BRCA1 or BRCA2. http://bcb.dfci.harvard.edu/bayesmendel/brcapro. Free php Breast Cancer Risk NCI Interactive tool to help estimate a woman's risk to develop breast cancer. http://www.cancer.gov/bcrisktool/ Free Assessment Tool (Gail) BRisk Beckman Research Breast Cancer risk assessment tool that uses the Claus model. Apple App Store Free Institute

CaGene UT Southwestern Probability calculators for carrying a BRCA1, BRCA2, MSH2, MLH1, MSH6 or www4.utsouthwestern.edu/breasthealth/cagene/ Free pancreatic ca mutation. Cancer Genetics UBQO Limited Assessment app that enables cancer genetic risk assessment referral. Apple App Store Free

Colorectal Cancer Risk NCI This tool can estimate the risk of colorectal cancer for men and women. http://www.cancer.gov/colorectalcancerrisk/ Free Assessment Tool CRA Health Risk Assessment CRA Health Cancer risk assessment software and services, in a range of standard and https://www.crahealth.com/product-suite- Free/Paid Platform customized setups comparison/ FRA-BOC Australian Online tool designed for use by health professionals such as general https://canceraustralia.gov.au/clinical-best- Free government practitioners and nurses. practice/gynaecological-cancers/familial-risk- assessment-fra-boc MELApro Johns Hopkins; Calculator to predict risk of carry a mutation in CDKN2A (p16) http://bcb.dfci.harvard.edu/bayesmendel/melapro. Free Dana-Farber php MMRPredict University of Calculates the risk that someone with colon cancer has a Lynch syndrome http://hnpccpredict.hgu.mrc.ac.uk/ Free Edinburgh & MRC mutation. Human Genetics Unit MMRPRO Harvard University Calculator to predict risk of carrying a mismatch repair gene mutation. http://bcb.dfci.harvard.edu/bayesmendel/mmrpro. Free php NCCN Guidelines NCCN The complete National Comprehensive Cancer Network guidelines on Apple App Store/Google Play Store Free mobile. NCHPEG colon tool NCHPEG/JAX Categorizes risk (high, moderate, or low) to have hereditary colon cancer. http://www.nchpeg.org/tools/ Free

PENN II UPenn Probability calculator for carrying a BRCA1 or BRCA2 mutation. http://apps.afcri.upenn.edu/itacc/penn2/ Free PREMM1,2,6 Harvard University Probability calculators for carrying an MSH2, MLH1, MSH6 mutation. http://premm.dfci.harvard.edu/ Free

Cancer Genetics Tools, Page 10

Resource Affiliation Description Link / Access Pricing

PTEN Calculator Cleveland Clinic Calculator to predict risk of carrying a mutation in PTEN gene http://www.lerner.ccf.org/gmi/ccscore/ Free Tyrer-Cuzick IBIS) Wolfson Institute Calculator to predict breast cancer risk and risk of carrying a BRCA http://www.ems-trials.org/riskevaluator/ Free of Preventive mutation. Medicine

CANCER-SPECIFIC DATABASES BRCA Exchange Global Alliance for Collects data on BRCA1/2 genetic variants and corresponding clinical data http://brcaexchange.org/ Free Genomics and from around the world. Health COSMIC Wellcome Trust Resource for exploring the impact of somatic mutations in human cancer. http://cancer.sanger.ac.uk/cosmic Free Sanger Institute InSiGHT Variant The Polyposis Classification of DNA variants in the genes that contribute to http://www.insight- Free Classifications Registry gastrointestinal cancer. database.org/classifications/index.html kConFab kConFab Classification of BRCA1 and BRCA2 mutations found in kConFab families http://www.kconfab.org/Progress/Mutations.aspx Free Foundation My Cancer Genome Vanderbilt Ingram Personalized cancer medicine database regarding somatic mutations and https://www.mycancergenome.org/ Free Cancer Center related therapeutic implications including clinical trials.

Pediatric Cancer Data Portal St. Jude Children's Raw sequence data, analysis, visualization tools for > 800 pediatric ca https://pecan.stjude.org/#/home Free Research Hospital patients.

Cancer Genetics Tools, Page 11

Prenatal Genetics Tools

Resource Affiliation Description Link / Access Pricing

CYTOGENICS RESOURCES Chromosome David Adler Printable chromosome ideograms http://www.pathology.washington.edu/research/cy Free ideograms topages/idiograms/human/ CyDAS Institut fuer Humangenetik Chromosomal rearrangement drawing software http://www.cydas.org/OnlineAnalysis/WebExample Free und Anthropologie 2.aspx

HC forum HC Net Human Cytogenetics Forum http://www.biologia.uniba.it/eca/NEWSLETTER/NS- Free 7/04-FORUM.html

COUNSELING RESOUCES ACOG App ACOG Mobile app with resources and up-to-date information from Apple App Store/ Android App Store Free ACOG RGH Counseling Guide Dennig Marketing Group LLC Genetic counseling tools for providers regarding reproductive Apple App Store/Google Play Store Free health genetic testing

PREGNANCY WHEELS Pregnancy Calculator American Pregnancy Online pregnancy calculator http://americanpregnancy.org/pregnancy- Free Association calculator/ Pregnancy Wheel Duprey Fuctions as a paper wheel, that factors in leap years Apple App Store/Google Play Store Paid

RISK CALCULATORS Carrier Frequency Focus Information Technology Uses Hardy-Weinberg equation to estimate the frequency carrier http://perinatology.com/calculators/Hardy- Free Calculator frequency Weinberg.htm NIPT / cfDNA Screening NSGC/Perinatal Quality.org Calculate positive predictive values from NIPT results https://www.perinatalquality.org/Vendors/NSGC/N Free Predictive Value IPT/ Calculator

TERATOGEN RESOURCES MotherToBaby Organization of Teratology Evidence-based information about medications and other https://mothertobaby.org/ Free Information Specialists exposures during pregnancy/breastfeeding

Reprotox Reproductive Toxicology Summarizes effects of known and potential teratogens on https://reprotox.org/ Paid Center pregnancy, reproduction, and development TERIS University of Washington Database for healthcare professionals to assess possible http://depts.washington.edu/terisdb/ Paid teratogenic risks in pregnancy TOXNET US National Library of Toxicology, hazardous chemicals, environmental health, and https://toxnet.nlm.nih.gov/ Free Medicine toxic releases search engine

Prenatal Genetics Tools, Page 12 Page 12

Cardiovascular Genetics Tools

Resource Affiliation Description Link / Access Pricing

RISK CALCULATOR HCM Risk-SCD Calculator European Society of Calculates risk of sudden death in hypertrophic cardiomyopathy and Apple App Store Free Cardiology decision-making tool for ICD placement Marfan Foundation Systematic Score Marfan Foundation Marfan clinical manifestations calculator https://www.marfan.org/dx/score Free

Sudden Cardiac Death (SCD) Post PCI N/A Risk calculator post revascularization SCDFacts.org Free Risk Calculator

PATIENT SPECIFIC RESOURCES HeartPedia Cincinnati Children's Heart 3-D images of heart defects and the repair for the heart defect Apple App Store Free Institute

Cardiovascular Genetics Tools, Page 13 Page 13

Educational and Reference Tools

Resource Affiliation Description Link / Access Pricing

BASIC GENETICS REFERENCES Essential Medical Genetics Wiley - Blackwell Textbook with bookmarks, highlight, and search functions and medical Apple App Store/Android App Store Paid 6th Edition calculators Genetics & Birth Defects Texas Children's Medical dictionary of terminology in genetics Apple App Store Free Hospital HGVS Sequence Variant Human Genome HGVS nomenclature reference http://varnomen.hgvs.org Free Nomenclature Variation Society

CLINICAL CARE RESOURCES ACMG ACT Sheets ACMG ACMG ACT Sheets and their accompanying algorithms Apple App Store/Google Play Store Free Datagenno Datagenno Interactive database of molecular and clinical genetic information Apple App Store/Google Play Store Free Genetics 4 Medics Drs. Varghese, Adkar & Infomation on genetic basis and characteristics of common genetic syndromes Apple App Store/Google Play Store Paid Subramanian ICD 10 Counsult 2017 Evan Schoenberg Searchable, complete, current ICD10-CM resource Apple App Store/Google Play Store Free Orphanet Several Portal for rare diseases and orphan drugs http://www.orpha.net Free

LITERATURE RESOURCES GeneCards Weizmann Institute of Annotated and predicted human genes database http://www.genecards.org/ Free Science GeneLit GeneLit Online / mobile / email literature review service for genetics professionals https://genelit.com/ Free/Paid

GeneReviews NCBI Information for inherited conditions in a standardized journal-style format https://www.ncbi.nlm.nih.gov/books/NBK1116/ Free

OMIM NHGRI An Online Catalog of Human Genes and Genetic Disorders http://www.omim.org/ Free PubMed NCBI Citations for biomedical literature https://www.ncbi.nlm.nih.gov/pubmed/ Free Pubsearch NCBI Pubmed search on mobile devices Apple App Store Free

PATIENT/STUDENT ORIENTED RESOURCES DENA DNA Dena Goldberg, MS, Blog about genetic counseling https://denadna.com/ Free LCGC Gene Screen Dolan DNA Learning Recessive genetic disease information focused on the Ashkenazi Jewish Apple App Store Free Center population Genetic Support Foundation Genetic Support Basic genetic information resource and telehealth provider https://www.geneticsupportfoundation.org/ Free Foundation Genetics and Evolution Russell Myers App to learn to solve population genetics problems Apple App Store/Google Play Store Free NSGC Genetic Counselor NSGC Provides information about genetic counselors and the genetic counseling visit http://www.aboutgeneticcounselors.com/ Free Patient Website

Education & Reference Tools, Page 14 Page 14