Colorado Care Network

Citations

No citation, no recommendation. These are every source behind the care maps and rosters, grouped by cohort. Each one was checked against the paper or chapter before it went on a page.

179 references across 21 cohorts, pulled from the pages themselves at build time.

Connective tissue 1.1

  1. Malfait F, Francomano C, Byers P, et al. The 2017 international classification of the Ehlers-Danlos syndromes. Am J Med Genet C Semin Med Genet. 2017;175(1):8-26. doi:10.1002/ajmg.c.31552
  2. Forghani I, See J, McGonigle WC. Hypermobile Ehlers-Danlos syndrome: diagnostic challenges and the role of genetic testing. Genes (Basel). 2025;16(5). doi:10.3390/genes16050530
  3. Aziz Q, Harris LA, Goodman BP, Simrén M, Shin A. AGA clinical practice update on GI manifestations and autonomic or immune dysfunction in hypermobile Ehlers-Danlos syndrome: expert review. Clin Gastroenterol Hepatol. 2025;23(8):1291-1302. doi:10.1016/j.cgh.2025.02.015
  4. Thwaites PA, Gibson PR, Burgell RE. Hypermobile Ehlers-Danlos syndrome and disorders of the gastrointestinal tract: what the gastroenterologist needs to know. J Gastroenterol Hepatol. 2022;37(9):1693-1709. doi:10.1111/jgh.15927

Nonspecific symptoms 1.2

  1. Oaklander AL, Herzog ZD, Downs HM, Klein MM. Objective evidence that small-fiber polyneuropathy underlies some illnesses currently labeled as fibromyalgia. Pain. 2013;154(11):2310-2316. doi:10.1016/j.pain.2013.06.001
  2. Vernino S, Bourne KM, Stiles LE, et al. Postural orthostatic tachycardia syndrome (POTS): state of the science and clinical care from a 2019 National Institutes of Health expert consensus meeting, part 1. Auton Neurosci. 2021;235:102828. doi:10.1016/j.autneu.2021.102828
  3. Raj SR, Arnold AC, Barboi A, et al. Long-COVID postural tachycardia syndrome: an American Autonomic Society statement. Clin Auton Res. 2021;31(3):365-368. doi:10.1007/s10286-021-00798-2
  4. Splinter K, Adams DR, Bacino CA, et al. Effect of genetic diagnosis on patients with previously undiagnosed disease. N Engl J Med. 2018;379(22):2131-2139. doi:10.1056/NEJMoa1714458

Specific signs 1.3

  1. Larid G, Vix J, Preuss P, et al. Detection of hypophosphatasia in hospitalised adults in rheumatology and internal medicine departments: a multicentre study over 10 years. RMD Open. 2024;10(2):e004316. doi:10.1136/rmdopen-2024-004316
  2. Dahir KM, Nunes ME. Hypophosphatasia. In: GeneReviews. Seattle (WA): University of Washington, Seattle; 1993-2026. Updated 2025. NBK1150
  3. Tornero C, Navarro-Compán V, Tenorio JA, et al. Can we identify individuals with an ALPL variant in adults with persistent hypophosphatasaemia? Orphanet J Rare Dis. 2020;15(1):51. doi:10.1186/s13023-020-1315-y
  4. Posey JE, Rosenfeld JA, James RA, et al. Molecular diagnostic experience of whole-exome sequencing in adult patients. Genet Med. 2016;18(7):678-685. doi:10.1038/gim.2015.142
  5. Kyriakides T, Angelini C, Schaefer J, et al. EFNS guidelines on the diagnostic approach to pauci- or asymptomatic hyperCKemia. Eur J Neurol. 2010;17(6):767-773. doi:10.1111/j.1468-1331.2010.03012.x
  6. Tornero C, Navarro-Compán V, Buño A, et al. Biochemical algorithm to identify individuals with ALPL variants among subjects with persistent hypophosphatasaemia. Orphanet J Rare Dis. 2022;17(1):98. doi:10.1186/s13023-022-02253-5
  7. Nakayama A, Matsuo H, Ohtahara A, et al. Clinical practice guideline for renal hypouricemia (1st edition). Hum Cell. 2019;32(2):83-87. doi:10.1007/s13577-019-00239-3
  8. Manickam K, McClain MR, Demmer LA, et al. Exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability: an evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2021;23(11):2029-2037. doi:10.1038/s41436-021-01242-6
  9. Dai P, Honda A, Ewans L, et al. Recommendations for next generation sequencing data reanalysis of unsolved cases with suspected Mendelian disorders: a systematic review and meta-analysis. Genet Med. 2022;24(8):1618-1629. doi:10.1016/j.gim.2022.04.021
  10. Groopman EE, Marasa M, Cameron-Christie S, et al. Diagnostic utility of exome sequencing for kidney disease. N Engl J Med. 2019;380(2):142-151. doi:10.1056/NEJMoa1806891
  11. Mathur T, Manadan AM, Thiagarajan S, et al. Serum transaminases are frequently elevated at time of diagnosis of idiopathic inflammatory myopathy and normalize with creatine kinase. J Clin Rheumatol. 2014;20(3):130-132. doi:10.1097/RHU.0000000000000038
  12. Kwo PY, Cohen SM, Lim JK. ACG clinical guideline: evaluation of abnormal liver chemistries. Am J Gastroenterol. 2017;112(1):18-35. doi:10.1038/ajg.2016.517

Progressive monogenic disease 1.4

  1. Johnson NE, Butterfield RJ, Mayne K, et al. Population-based prevalence of myotonic dystrophy type 1 using genetic analysis of statewide blood screening program. Neurology. 2021;96(7):e1045-e1053. doi:10.1212/WNL.0000000000011425
  2. Groh WJ, Groh MR, Saha C, et al. Electrocardiographic abnormalities and sudden death in myotonic dystrophy type 1. N Engl J Med. 2008;358(25):2688-2697. doi:10.1056/NEJMoa062800
  3. Ashizawa T, Gagnon C, Groh WJ, et al. Consensus-based care recommendations for adults with myotonic dystrophy type 1. Neurol Clin Pract. 2018;8(6):507-520. doi:10.1212/CPJ.0000000000000531
  4. Birnkrant DJ, Bushby K, Bann CM, et al. Diagnosis and management of Duchenne muscular dystrophy, part 2: respiratory, cardiac, bone health, and orthopaedic management. Lancet Neurol. 2018;17(4):347-361. doi:10.1016/S1474-4422(18)30025-5
  5. Birnkrant DJ, Bushby K, Bann CM, et al. Diagnosis and management of Duchenne muscular dystrophy, part 3: primary care, emergency management, psychosocial care, and transitions of care across the lifespan. Lancet Neurol. 2018;17(5):445-455. doi:10.1016/S1474-4422(18)30026-7
  6. Bird TD. Myotonic dystrophy type 1. In: GeneReviews. Seattle (WA): University of Washington, Seattle; 1993-2026. Revised 2024 Nov 14. NBK1165
  7. Khan A, Frazer-Green L, Amin R, et al. Respiratory management of patients with neuromuscular weakness: an American College of Chest Physicians clinical practice guideline and expert panel report. Chest. 2023;164(2):394-413. doi:10.1016/j.chest.2023.03.011
  8. Groh WJ, Bhakta D, Tomaselli GF, et al. 2022 HRS expert consensus statement on evaluation and management of arrhythmic risk in neuromuscular disorders. Heart Rhythm. 2022;19(10):e61-e120. doi:10.1016/j.hrthm.2022.04.022
  9. Tawil R, Kissel JT, Heatwole C, et al. Evidence-based guideline summary: evaluation, diagnosis, and management of facioscapulohumeral muscular dystrophy. Neurology. 2015;85(4):357-364. doi:10.1212/WNL.0000000000001783

Management and surveillance 1.5

  1. Stewart DR, Korf BR, Nathanson KL, Stevenson DA, Yohay K. Care of adults with neurofibromatosis type 1: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2018;20(7):671-682. doi:10.1038/gim.2018.28
  2. Gravholt CH, Andersen NH, Christin-Maitre S, et al. Clinical practice guidelines for the care of girls and women with Turner syndrome. Eur J Endocrinol. 2024;190(6):G53-G151. doi:10.1093/ejendo/lvae050
  3. Schneider M, Debbané M, Bassett AS, et al. Psychiatric disorders from childhood to adulthood in 22q11.2 deletion syndrome: results from the International Consortium on Brain and Behavior in 22q11.2 Deletion Syndrome. Am J Psychiatry. 2014;171(6):627-639. doi:10.1176/appi.ajp.2013.13070864
  4. Cheung EN, George SR, Costain GA, et al. Prevalence of hypocalcaemia and its associated features in 22q11.2 deletion syndrome. Clin Endocrinol (Oxf). 2014;81(2):190-196. doi:10.1111/cen.12466
  5. Friedman JM. Neurofibromatosis 1. In: GeneReviews. Seattle (WA): University of Washington, Seattle; 1993-2026. Revised 2025 Apr 3. NBK1109
  6. McDonald-McGinn DM, Hain HS, Emanuel BS, Zackai EH. 22q11.2 deletion syndrome. In: GeneReviews. Seattle (WA): University of Washington, Seattle; 1993-2026. Revised 2025 May 8. NBK1523
  7. Isselbacher EM, Preventza O, Hamilton Black J 3rd, et al. 2022 ACC/AHA guideline for the diagnosis and management of aortic disease: a report of the American Heart Association/American College of Cardiology Joint Committee on Clinical Practice Guidelines. Circulation. 2022;146(24):e334-e482. doi:10.1161/CIR.0000000000001106
  8. Boot E, Óskarsdóttir S, Loo JCY, et al. Updated clinical practice recommendations for managing adults with 22q11.2 deletion syndrome. Genet Med. 2023;25(3):100344. doi:10.1016/j.gim.2022.11.012
  9. Pitcher A, Spata E, Emberson J, et al. Angiotensin receptor blockers and β blockers in Marfan syndrome: an individual patient data meta-analysis of randomised trials. Lancet. 2022;400(10355):822-831. doi:10.1016/S0140-6736(22)01534-3
  10. Moertel CL, Hirbe AC, Shuhaiber HH, et al. ReNeu: a pivotal, phase IIb trial of mirdametinib in adults and children with symptomatic neurofibromatosis type 1-associated plexiform neurofibroma. J Clin Oncol. 2025;43(6):716-729. doi:10.1200/JCO.24.01034

Lysosomal storage disorders 2.1

  1. Sperry E, Leslie N, Berry L, Pena L. Pompe disease. In: Adam MP, Bick S, Mirzaa GM, et al., editors. GeneReviews. Seattle (WA): University of Washington, Seattle; 1993-2026. NBK1261
  2. Hughes DA, Pastores GM. Gaucher disease. In: Adam MP, Bick S, Mirzaa GM, et al., editors. GeneReviews. Seattle (WA): University of Washington, Seattle; 1993-2026. NBK1269
  3. Mehta A, Hughes DA. Fabry disease. In: Adam MP, Bick S, Mirzaa GM, et al., editors. GeneReviews. Seattle (WA): University of Washington, Seattle; 1993-2026. NBK1292
  4. Wasserstein MP, Schuchman EH. Acid sphingomyelinase deficiency. In: Adam MP, Bick S, Mirzaa GM, et al., editors. GeneReviews. Seattle (WA): University of Washington, Seattle; 1993-2026. NBK1370
  5. Clarke LA. Mucopolysaccharidosis type I. In: Adam MP, Bick S, Mirzaa GM, et al., editors. GeneReviews. Seattle (WA): University of Washington, Seattle; 1993-2026. NBK1162
  6. Ficicioglu C, Stepien KM. Alpha-mannosidosis. In: Adam MP, Bick S, Mirzaa GM, et al., editors. GeneReviews. Seattle (WA): University of Washington, Seattle; 1993-2026. NBK1396
  7. Lukacs Z, Nieves Cobos P, Wenninger S, et al. Prevalence of Pompe disease in 3,076 patients with hyperCKemia and limb-girdle muscular weakness. Neurology. 2016;87(3):295-298. doi:10.1212/WNL.0000000000002758
  8. Doheny D, Srinivasan R, Pagant S, et al. Fabry disease: prevalence of affected males and heterozygotes with pathogenic GLA mutations identified by screening renal, cardiac and stroke clinics, 1995-2017. J Med Genet. 2018;55(4):261-268. doi:10.1136/jmedgenet-2017-105080
  9. van der Ploeg AT, Clemens PR, Corzo D, et al. A randomized study of alglucosidase alfa in late-onset Pompe's disease. N Engl J Med. 2010;362(15):1396-1406. doi:10.1056/NEJMoa0909859
  10. Wasserstein M, Lachmann R, Hollak C, et al. A randomized, placebo-controlled clinical trial evaluating olipudase alfa enzyme replacement therapy for chronic acid sphingomyelinase deficiency (ASMD) in adults: one-year results. Genet Med. 2022;24(7):1425-1436. doi:10.1016/j.gim.2022.03.021
  11. Borgwardt L, Guffon N, Amraoui Y, et al. Efficacy and safety of velmanase alfa in the treatment of patients with alpha-mannosidosis: results from the core and extension phase analysis of a phase III multicentre, double-blind, randomised, placebo-controlled trial. J Inherit Metab Dis. 2018;41(6):1215-1223. doi:10.1007/s10545-018-0185-0
  12. Kane M, Dean L. Eliglustat therapy and CYP2D6 genotype. In: Pratt VM, Scott SA, Pirmohamed M, et al., editors. Medical Genetics Summaries. Bethesda (MD): National Center for Biotechnology Information (US); 2012-. NBK565950
  13. Germain DP, Hughes DA, Nicholls K, et al. Treatment of Fabry's disease with the pharmacologic chaperone migalastat. N Engl J Med. 2016;375(6):545-555. doi:10.1056/NEJMoa1510198
  14. Ortiz A, Germain DP, Desnick RJ, et al. Fabry disease revisited: management and treatment recommendations for adult patients. Mol Genet Metab. 2018;123(4):416-427. doi:10.1016/j.ymgme.2018.02.014
  15. Diaz-Manera J, Kishnani PS, Kushlaf H, et al. Safety and efficacy of avalglucosidase alfa versus alglucosidase alfa in patients with late-onset Pompe disease (COMET): a phase 3, randomised, multicentre trial. Lancet Neurol. 2021;20(12):1012-1026. doi:10.1016/S1474-4422(21)00241-6
  16. Mistry PK, Lukina E, Ben Turkia H, et al. Effect of oral eliglustat on splenomegaly in patients with Gaucher disease type 1: the ENGAGE randomized clinical trial. JAMA. 2015;313(7):695-706. doi:10.1001/jama.2015.459

Hypophosphatasia 2.2

  1. Khan AA, Brandi ML, Rush ET, et al. Hypophosphatasia diagnosis: current state of the art and proposed diagnostic criteria for children and adults. Osteoporos Int. 2024;35(3):431-438. doi:10.1007/s00198-023-06844-1
  2. Khan AA, Ali DS, Appelman-Dijkstra NM, et al. X-linked hypophosphatemia management in adults: an International Working Group clinical practice guideline. J Clin Endocrinol Metab. 2025;110(8):2353-2370. doi:10.1210/clinem/dgaf170
  3. Schäfer VS, Hinman J, Moss K, et al. Prevalence of hypophosphatasia in general and selected patient populations: a systematic review. Osteoporos Int. 2026. doi:10.1007/s00198-026-08227-8
  4. Sutton RA, Mumm S, Coburn SP, et al. "Atypical femoral fractures" during bisphosphonate exposure in adult hypophosphatasia. J Bone Miner Res. 2012;27(5):987-994. doi:10.1002/jbmr.1565
  5. Dahir KM, Nunes ME. Hypophosphatasia. In: Adam MP, Bick S, Mirzaa GM, et al., editors. GeneReviews. Seattle (WA): University of Washington, Seattle; 1993-2026. NBK1150
  6. Bhattacharyya T, Jha S, Wang H, et al. Hypophosphatasia and the risk of atypical femur fractures: a case-control study. BMC Musculoskelet Disord. 2016;17:332. doi:10.1186/s12891-016-1191-8
  7. Laurent MR, Harvengt P, Mortier GR, Böckenhauer D. X-linked hypophosphatemia. In: Adam MP, Bick S, Mirzaa GM, et al., editors. GeneReviews. Seattle (WA): University of Washington, Seattle; 1993-2026. NBK83985
  8. Kishnani PS, Rockman-Greenberg C, Rauch F, et al. Five-year efficacy and safety of asfotase alfa therapy for adults and adolescents with hypophosphatasia. Bone. 2019;121:149-162. doi:10.1016/j.bone.2018.12.011
  9. Insogna KL, Briot K, Imel EA, et al. A randomized, double-blind, placebo-controlled, phase 3 trial evaluating the efficacy of burosumab, an anti-FGF23 antibody, in adults with X-linked hypophosphatemia: week 24 primary analysis. J Bone Miner Res. 2018;33(8):1383-1393. doi:10.1002/jbmr.3475

Transthyretin amyloidosis 2.3

  1. Sperry BW, Reyes BA, Ikram A, et al. Tenosynovial and cardiac amyloidosis in patients undergoing carpal tunnel release. J Am Coll Cardiol. 2018;72(17):2040-2050. doi:10.1016/j.jacc.2018.07.092
  2. Gillmore JD, Maurer MS, Falk RH, et al. Nonbiopsy diagnosis of cardiac transthyretin amyloidosis. Circulation. 2016;133(24):2404-2412. doi:10.1161/CIRCULATIONAHA.116.021612
  3. Maurer MS, Schwartz JH, Gundapaneni B, et al. Tafamidis treatment for patients with transthyretin amyloid cardiomyopathy. N Engl J Med. 2018;379(11):1007-1016. doi:10.1056/NEJMoa1805689
  4. Adams D, Gonzalez-Duarte A, O'Riordan WD, et al. Patisiran, an RNAi therapeutic, for hereditary transthyretin amyloidosis. N Engl J Med. 2018;379(1):11-21. doi:10.1056/NEJMoa1716153

Inherited metabolic disease 2.4

  1. Arnold G, Vockley J. Phenylalanine hydroxylase deficiency. In: Adam MP, Bick S, Mirzaa GM, et al., editors. GeneReviews. Seattle (WA): University of Washington, Seattle; 1993-2026. NBK1504
  2. Vockley J, Andersson HC, Antshel KM, et al. Phenylalanine hydroxylase deficiency: diagnosis and management guideline. Genet Med. 2014;16(2):188-200. doi:10.1038/gim.2013.157
  3. Thomas J, Levy H, Amato S, et al. Pegvaliase for the treatment of phenylketonuria: results of a long-term phase 3 clinical trial program (PRISM). Mol Genet Metab. 2018;124(1):27-38. doi:10.1016/j.ymgme.2018.03.006
  4. Toquet S, Spodenkiewicz M, Douillard C, et al. Adult-onset diagnosis of urea cycle disorders: results of a French cohort of 71 patients. J Inherit Metab Dis. 2021;44(5):1199-1214. doi:10.1002/jimd.12403
  5. Das AM. Urea cycle defects in adulthood: clinical presentation, diagnosis and treatment in genetically encoded hepatic metabolic disorders with a potential for encephalopathy. Metab Brain Dis. 2025;40(5):192. doi:10.1007/s11011-025-01619-5
  6. Sacharow SJ, Levy HL. Homocystinuria due to cystathionine beta-synthase deficiency. In: Adam MP, Bick S, Mirzaa GM, et al., editors. GeneReviews. Seattle (WA): University of Washington, Seattle; 1993-2026. NBK1524
  7. Morris AAM, Kožich V, Santra S, et al. Guidelines for the diagnosis and management of cystathionine beta-synthase deficiency. J Inherit Metab Dis. 2017;40(1):49-74. doi:10.1007/s10545-016-9979-0
  8. Federico A, Gallus GN. Cerebrotendinous xanthomatosis. In: Adam MP, Bick S, Mirzaa GM, et al., editors. GeneReviews. Seattle (WA): University of Washington, Seattle; 1993-2026. NBK1409
  9. Wang B, Bonkovsky HL, Lim JK, Balwani M. AGA clinical practice update on diagnosis and management of acute hepatic porphyrias: expert review. Gastroenterology. 2023;164(3):484-491. doi:10.1053/j.gastro.2022.11.034
  10. Balwani M, Sardh E, Ventura P, et al. Phase 3 trial of RNAi therapeutic givosiran for acute intermittent porphyria. N Engl J Med. 2020;382(24):2289-2301. doi:10.1056/NEJMoa1913147
  11. Weiss KH, Schilsky M. Wilson disease. In: Adam MP, Bick S, Mirzaa GM, et al., editors. GeneReviews. Seattle (WA): University of Washington, Seattle; 1993-2026. NBK1512
  12. Stoller JK, Hupertz V, Aboussouan LS. Alpha-1 antitrypsin deficiency. In: Adam MP, Bick S, Mirzaa GM, et al., editors. GeneReviews. Seattle (WA): University of Washington, Seattle; 1993-2026. NBK1519
  13. Sandhaus RA, Turino G, Brantly ML, et al. The diagnosis and management of alpha-1 antitrypsin deficiency in the adult. Chronic Obstr Pulm Dis. 2016;3(3):668-682. doi:10.15326/jcopdf.3.3.2015.0182
  14. Chapman KR, Burdon JG, Piitulainen E, et al. Intravenous augmentation treatment and lung density in severe α1 antitrypsin deficiency (RAPID): a randomised, double-blind, placebo-controlled trial. Lancet. 2015;386(9991):360-368. doi:10.1016/S0140-6736(15)60860-1
  15. Barton JC, Parker CJ. HFE-related hemochromatosis. In: Adam MP, Bick S, Mirzaa GM, et al., editors. GeneReviews. Seattle (WA): University of Washington, Seattle; 1993-2026. NBK1440
  16. Allen KJ, Gurrin LC, Constantine CC, et al. Iron-overload-related disease in HFE hereditary hemochromatosis. N Engl J Med. 2008;358(3):221-230. doi:10.1056/NEJMoa073286
  17. Kowdley KV, Brown KE, Ahn J, Sundaram V. ACG clinical guideline: hereditary hemochromatosis. Am J Gastroenterol. 2019;114(8):1202-1218. doi:10.14309/ajg.0000000000000315

Neurogenetic 2.5

  1. Parikh S, Goldstein A, Koenig MK, et al. Diagnosis and management of mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society. Genet Med. 2015;17(9):689-701. doi:10.1038/gim.2014.177
  2. Parikh S, Goldstein A, Karaa A, et al. Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society. Genet Med. 2017;19(12). doi:10.1038/gim.2017.107
  3. Lynch DR, Chin MP, Delatycki MB, et al. Safety and efficacy of omaveloxolone in Friedreich ataxia (MOXIe study). Ann Neurol. 2021;89(2):212-225. doi:10.1002/ana.25934
  4. Lynch DR, Chin MP, Boesch S, et al. Efficacy of omaveloxolone in Friedreich's ataxia: delayed-start analysis of the MOXIe extension. Mov Disord. 2023;38(2):313-320. doi:10.1002/mds.29286
  5. Pitsava G, Hawley M, Auriga L, et al. Genome sequencing reveals the impact of pseudoexons in rare genetic disease. Genet Med. 2025;27(11):101574. doi:10.1016/j.gim.2025.101574
  6. Toro Jimenez W, Yang M, Song W, et al. Real-world treatment patterns in patients with spinal muscular atrophy receiving multiple disease-modifying therapies. Adv Ther. 2026. doi:10.1007/s12325-026-03710-4

Hereditary cancer risk 3.1

  1. US Preventive Services Task Force. Risk assessment, genetic counseling, and genetic testing for BRCA-related cancer: US Preventive Services Task Force recommendation statement. JAMA. 2019;322(7):652-665. doi:10.1001/jama.2019.10987
  2. McKenzie M, Quinn M, Stockley C, et al. Cancer surveillance in Lynch syndrome: a scoping review of international and national guidelines. Genet Med. 2026;28(9):102610. doi:10.1016/j.gim.2026.102610
  3. Abu-Freha N, Hozaeel W, Weissmann S, et al. Lynch syndrome: similarities and differences of recommendations in published guidelines. J Gastroenterol Hepatol. 2025;40(3):564-573. doi:10.1111/jgh.16881
  4. Pederson HJ, Narod SA. Why is genetic testing underutilized worldwide? The case for hereditary breast cancer. BJC Rep. 2024;2(1):73. doi:10.1038/s44276-024-00099-x
  5. Ritchie JB, Welch BM, Allen CG, et al. Comparison of a cancer family history collection and risk assessment tool, ItRunsInMyFamily, with risk assessment by health-care professionals. Public Health Genomics. 2022;25(3-4):80-88. doi:10.1159/000520001

Comprehensive genetic risk 3.2

  1. Miller DT, Lee K, Abul-Husn NS, et al. ACMG SF v3.2 list for reporting of secondary findings in clinical exome and genome sequencing: a policy statement of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2023;25(8):100866. doi:10.1016/j.gim.2023.100866
  2. Grzymski JJ, Elhanan G, Morales Rosado JA, et al. Population genetic screening efficiently identifies carriers of autosomal dominant diseases. Nat Med. 2020;26(8):1235-1239. doi:10.1038/s41591-020-0982-5
  3. Buchanan AH, Lester Kirchner H, Schwartz MLB, et al. Clinical outcomes of a genomic screening program for actionable genetic conditions. Genet Med. 2020;22(11):1874-1882. doi:10.1038/s41436-020-0876-4
  4. Jones LK, Calvo EM, Campbell-Salome G, et al. Designing implementation strategies to improve identification, cascade testing, and management of families with familial hypercholesterolemia: an intervention mapping approach. Front Health Serv. 2023;3:1104311. doi:10.3389/frhs.2023.1104311

Polygenic risk score 3.3

  1. O'Sullivan JW, Raghavan S, Marquez-Luna C, et al. Polygenic risk scores for cardiovascular disease: a scientific statement from the American Heart Association. Circulation. 2022;146(8):e93-e118. doi:10.1161/CIR.0000000000001077
  2. Khera AV, Chaffin M, Aragam KG, et al. Genome-wide polygenic scores for common diseases identify individuals with risk equivalent to monogenic mutations. Nat Genet. 2018;50(9):1219-1224. doi:10.1038/s41588-018-0183-z
  3. Hingorani AD, Gratton J, Finan C, et al. Performance of polygenic risk scores in screening, prediction, and risk stratification: secondary analysis of data in the Polygenic Score Catalog. BMJ Med. 2023;2(1):e000554. doi:10.1136/bmjmed-2023-000554
  4. Khan SS, Post WS, Guo X, et al. Coronary artery calcium score and polygenic risk score for the prediction of coronary heart disease events. JAMA. 2023;329(20):1768-1777. doi:10.1001/jama.2023.7575
  5. Natarajan P, Young R, Stitziel NO, et al. Polygenic risk score identifies subgroup with higher burden of atherosclerosis and greater relative benefit from statin therapy in the primary prevention setting. Circulation. 2017;135(22):2091-2101. doi:10.1161/CIRCULATIONAHA.116.024436
  6. Kullo IJ, Jouni H, Austin EE, et al. Incorporating a genetic risk score into coronary heart disease risk estimates: effect on low-density lipoprotein cholesterol levels (the MI-GENES clinical trial). Circulation. 2016;133(12):1181-1188. doi:10.1161/CIRCULATIONAHA.115.020109
  7. Fahed AC, Wang M, Homburger JR, et al. Polygenic background modifies penetrance of monogenic variants for tier 1 genomic conditions. Nat Commun. 2020;11(1):3635. doi:10.1038/s41467-020-17374-3
  8. Martin AR, Kanai M, Kamatani Y, et al. Clinical use of current polygenic risk scores may exacerbate health disparities. Nat Genet. 2019;51(4):584-591. doi:10.1038/s41588-019-0379-x
  9. Privé F, Aschard H, Carmi S, et al. Portability of 245 polygenic scores when derived from the UK Biobank and applied to 9 ancestry groups from the same cohort. Am J Hum Genet. 2022;109(1):12-23. doi:10.1016/j.ajhg.2021.11.008
  10. Khera AV, Emdin CA, Drake I, et al. Genetic risk, adherence to a healthy lifestyle, and coronary disease. N Engl J Med. 2016;375(24):2349-2358. doi:10.1056/NEJMoa1605086
  11. Mavaddat N, Michailidou K, Dennis J, et al. Polygenic risk scores for prediction of breast cancer and breast cancer subtypes. Am J Hum Genet. 2019;104(1):21-34. doi:10.1016/j.ajhg.2018.11.002
  12. Lee A, Mavaddat N, Wilcox AN, et al. BOADICEA: a comprehensive breast cancer risk prediction model incorporating genetic and nongenetic risk factors. Genet Med. 2019;21(8):1708-1718. doi:10.1038/s41436-018-0406-9
  13. McHugh JK, Bancroft EK, Saunders E, et al. Assessment of a polygenic risk score in screening for prostate cancer. N Engl J Med. 2025;392(14):1406-1417. doi:10.1056/NEJMoa2407934
  14. Sud A, McNeill A, Vickers AJ. Comparison of results from the BARCODE1 study and contemporary prostate cancer screening trials. Eur Urol Oncol. 2026;9(3):524-528. doi:10.1016/j.euo.2025.12.013
  15. Wright AK, Huang T, Carr MJ, et al. Clinical utility of self-reported sleep duration and insomnia symptoms in type 2 diabetes prediction. Diabetologia. 2025;68(11):2523-2534. doi:10.1007/s00125-025-06503-6
  16. Wand H, Lambert SA, Tamburro C, et al. Improving reporting standards for polygenic scores in risk prediction studies. Nature. 2021;591(7849):211-219. doi:10.1038/s41586-021-03243-6
  17. Lennon NJ, Kottyan LC, Kachulis C, et al. Selection, optimization and validation of ten chronic disease polygenic risk scores for clinical implementation in diverse US populations. Nat Med. 2024;30(2):480-487. doi:10.1038/s41591-024-02796-z

Pharmacogenomic profile 3.4

  1. Amstutz U, Henricks LM, Offer SM, et al. Clinical Pharmacogenetics Implementation Consortium (CPIC) guideline for dihydropyrimidine dehydrogenase genotype and fluoropyrimidine dosing: 2017 update. Clin Pharmacol Ther. 2018;103(2):210-216. doi:10.1002/cpt.911
  2. Hertz DL, Bousman CA, McLeod HL, et al. Recommendations for pharmacogenetic testing in clinical practice guidelines in the US. Am J Health Syst Pharm. 2024;81(16):672-683. doi:10.1093/ajhp/zxae110
  3. Van Driest SL, Shi Y, Bowton EA, et al. Clinically actionable genotypes among 10,000 patients with preemptive pharmacogenomic testing. Clin Pharmacol Ther. 2014;95(4):423-431. doi:10.1038/clpt.2013.229
  4. Swen JJ, van der Wouden CH, Manson LE, et al. A 12-gene pharmacogenetic panel to prevent adverse drug reactions: an open-label, multicentre, controlled, cluster-randomised crossover implementation study. Lancet. 2023;401(10374):347-356. doi:10.1016/S0140-6736(22)01841-4
  5. Pereira NL, Farkouh ME, So D, et al. Effect of genotype-guided oral P2Y12 inhibitor selection vs conventional clopidogrel therapy on ischemic outcomes after percutaneous coronary intervention: the TAILOR-PCI randomized clinical trial. JAMA. 2020;324(8):761-771. doi:10.1001/jama.2020.12443
  6. Caudle KE, Dunnenberger HM, Freimuth RR, et al. Standardizing terms for clinical pharmacogenetic test results: consensus terms from the Clinical Pharmacogenetics Implementation Consortium (CPIC). Genet Med. 2017;19(2):215-223. doi:10.1038/gim.2016.87
  7. Crews KR, Monte AA, Huddart R, et al. Clinical Pharmacogenetics Implementation Consortium guideline for CYP2D6, OPRM1, and COMT genotypes and select opioid therapy. Clin Pharmacol Ther. 2021;110(4):888-896. doi:10.1002/cpt.2149
  8. Bousman CA, Stevenson JM, Ramsey LB, et al. Clinical Pharmacogenetics Implementation Consortium (CPIC) guideline for CYP2D6, CYP2C19, CYP2B6, SLC6A4, and HTR2A genotypes and serotonin reuptake inhibitor antidepressants. Clin Pharmacol Ther. 2023;114(1):51-68. doi:10.1002/cpt.2903
  9. Lee CR, Luzum JA, Sangkuhl K, et al. Clinical Pharmacogenetics Implementation Consortium guideline for CYP2C19 genotype and clopidogrel therapy: 2022 update. Clin Pharmacol Ther. 2022;112(5):959-967. doi:10.1002/cpt.2526
  10. Maillard M, Schwab M, Whirl-Carrillo M, et al. Clinical Pharmacogenetics Implementation Consortium (CPIC) guideline for thiopurine dosing based on TPMT and NUDT15 genotypes: 2025 update. Clin Pharmacol Ther. 2026;119(4):916-927. doi:10.1002/cpt.70209
  11. Pratt VM, Cavallari LH, Del Tredici AL, et al. Recommendations for clinical CYP2D6 genotyping allele selection: a joint consensus recommendation of the Association for Molecular Pathology, College of American Pathologists, Dutch Pharmacogenetics Working Group of the Royal Dutch Pharmacists Association, and the European Society for Pharmacogenomics and Personalized Therapy. J Mol Diagn. 2021;23(9):1047-1064. doi:10.1016/j.jmoldx.2021.05.013
  12. Kratz J, Merritt K, Jorgensen J, et al. Importance of and strategies for implementing DPYD testing to prevent severe fluoropyrimidine chemotherapy toxicity in health care systems. Am Soc Clin Oncol Educ Book. 2026;46(3):e521184. doi:10.1200/EDBK-26-521184
  13. FitzGerald JD, Dalbeth N, Mikuls T, et al. 2020 American College of Rheumatology guideline for the management of gout. Arthritis Care Res (Hoboken). 2020;72(6):744-760. doi:10.1002/acr.24180
  14. Hershfield MS, Callaghan JT, Tassaneeyakul W, et al. Clinical Pharmacogenetics Implementation Consortium guidelines for human leukocyte antigen-B genotype and allopurinol dosing. Clin Pharmacol Ther. 2013;93(2):153-158. doi:10.1038/clpt.2012.209
  15. Saito Y, Stamp LK, Caudle KE, et al. Clinical Pharmacogenetics Implementation Consortium (CPIC) guidelines for human leukocyte antigen B (HLA-B) genotype and allopurinol dosing: 2015 update. Clin Pharmacol Ther. 2016;99(1):36-37. doi:10.1002/cpt.161
  16. Cooper-DeHoff RM, Niemi M, Ramsey LB, et al. The Clinical Pharmacogenetics Implementation Consortium guideline for SLCO1B1, ABCG2, and CYP2C9 genotypes and statin-associated musculoskeletal symptoms. Clin Pharmacol Ther. 2022;111(5):1007-1021. doi:10.1002/cpt.2557

Preconception carrier screening 3.5

  1. Gregg AR, Aarabi M, Klugman S, et al. Screening for autosomal recessive and X-linked conditions during pregnancy and preconception: a practice resource of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2021;23(10):1793-1806. doi:10.1038/s41436-021-01203-z
  2. Hunter JE, Berry-Kravis E, Hipp H, Todd PK. FMR1 disorders. In: Adam MP, Bick S, Mirzaa GM, et al., editors. GeneReviews. Seattle (WA): University of Washington, Seattle; 1993-2026. Updated 2024 May 16. NBK1384
  3. Savant A, Bojanowski CM, Upadia J. Cystic fibrosis. In: Adam MP, Bick S, Mirzaa GM, et al., editors. GeneReviews. Seattle (WA): University of Washington, Seattle; 1993-2026. Updated 2026 Oct 1. NBK1250
  4. Kirk EP, Delatycki MB, Archibald AD, et al. Nationwide, couple-based genetic carrier screening. N Engl J Med. 2024;391(20):1877-1889. doi:10.1056/NEJMoa2314768
  5. Haque IS, Lazarin GA, Kang HP, et al. Modeled fetal risk of genetic diseases identified by expanded carrier screening. JAMA. 2016;316(7):734-742. doi:10.1001/jama.2016.11139
  6. American College of Obstetricians and Gynecologists Committee on Genetics. Committee Opinion No. 690 summary: carrier screening in the age of genomic medicine. Obstet Gynecol. 2017;129(3):595-596. doi:10.1097/AOG.0000000000001947
  7. Sagaser KG, Malinowski J, Westerfield L, et al. Expanded carrier screening for reproductive risk assessment: an evidence-based practice guideline from the National Society of Genetic Counselors. J Genet Couns. 2023;32(3):540-557. doi:10.1002/jgc4.1676
  8. American College of Obstetricians and Gynecologists Committee on Genetics. Committee Opinion No. 691: carrier screening for genetic conditions. Obstet Gynecol. 2017;129(3):e41-e55. doi:10.1097/AOG.0000000000001952
  9. Cliffe CC, Allcock RJN, Laing NG, et al. Laboratory considerations for reproductive genetic carrier screening: experiences from Mackenzie's Mission. J Mol Diagn. 2026;28(10):732-747. doi:10.1016/j.jmoldx.2026.06.009
  10. Ghiossi CE, Goldberg JD, Haque IS, Lazarin GA, Wong KK. Clinical utility of expanded carrier screening: reproductive behaviors of at-risk couples. J Genet Couns. 2018;27(3):616-625. doi:10.1007/s10897-017-0160-1
  11. Tutty E, Archibald AD, Dawson-McClaren BJ, et al. Psychosocial outcomes of reproductive genetic carrier screening up to five years post-result. Eur J Hum Genet. Published online 2026 Jun 26. doi:10.1038/s41431-026-02167-x
  12. Tamary H, Greenberg-Kushnir N, Dgany O. Alpha-thalassemia. In: Adam MP, Bick S, Mirzaa GM, et al., editors. GeneReviews. Seattle (WA): University of Washington, Seattle; 1993-2026. Updated 2026 Apr 23. NBK1435

Esoteric assays 4.3

  1. Deignan JL, Chung WK, Kearney HM, et al. Points to consider in the reevaluation and reanalysis of genomic test results: a statement of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2019;21(6):1267-1270. doi:10.1038/s41436-019-0478-1
  2. Sharer JD, De Biase I, Matern D, et al. Laboratory analysis of amino acids, 2018 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2018;20(12):1499-1507. doi:10.1038/s41436-018-0328-6
  3. Aziz Q, Harris LA, Goodman BP, Simrén M, Shin A. AGA clinical practice update on GI manifestations and autonomic or immune dysfunction in hypermobile Ehlers-Danlos syndrome: expert review. Clin Gastroenterol Hepatol. 2025;23(8):1291-1302. doi:10.1016/j.cgh.2025.02.015
  4. Khan AA, Brandi ML, Rush ET, et al. Hypophosphatasia diagnosis: current state of the art and proposed diagnostic criteria for children and adults. Osteoporos Int. 2024;35(3):431-438. doi:10.1007/s00198-023-06844-1
  5. Relling MV, Klein TE. CPIC: Clinical Pharmacogenetics Implementation Consortium of the Pharmacogenomics Research Network. Clin Pharmacol Ther. 2011;89(3):464-467. doi:10.1038/clpt.2010.279
  6. Kaul KL, Sabatini LM, Tsongalis GJ, et al. The case for laboratory developed procedures: quality and positive impact on patient care. Acad Pathol. 2017;4:2374289517708309. doi:10.1177/2374289517708309
  7. Choi J, Jeon S, Jung J, et al. Comparative analysis of in vitro diagnostic medical devices and laboratory-developed tests: insights from global regulation. Health Policy. 2026;172:105694. doi:10.1016/j.healthpol.2026.105694
  8. Richards S, Aziz N, Bale S, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015;17(5):405-424. doi:10.1038/gim.2015.30

Clinical expertise 4.4

  1. Richards S, Aziz N, Bale S, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015;17(5):405-424. doi:10.1038/gim.2015.30
  2. Amendola LM, Jarvik GP, Leo MC, et al. Performance of ACMG-AMP variant-interpretation guidelines among nine laboratories in the Clinical Sequencing Exploratory Research Consortium. Am J Hum Genet. 2016;98(6):1067-1076. doi:10.1016/j.ajhg.2016.03.024
  3. Mersch J, Brown N, Pirzadeh-Miller S, et al. Prevalence of variant reclassification following hereditary cancer genetic testing. JAMA. 2018;320(12):1266-1274. doi:10.1001/jama.2018.13152
  4. Splinter K, Adams DR, Bacino CA, et al. Effect of genetic diagnosis on patients with previously undiagnosed disease. N Engl J Med. 2018;379(22):2131-2139. doi:10.1056/NEJMoa1714458
  5. Deignan JL, Chung WK, Kearney HM, et al. Points to consider in the reevaluation and reanalysis of genomic test results: a statement of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2019;21(6):1267-1270. doi:10.1038/s41436-019-0478-1

Empiric therapies 4.5

  1. Ditters IAM, van Kooten HA, van der Beek NAME, et al. Home-based infusion of alglucosidase alfa can safely be implemented in adults with late-onset Pompe disease: lessons learned from 18,380 infusions. BioDrugs. 2023;37(5):685-698. doi:10.1007/s40259-023-00609-2
  2. Quertermous J, Desai S, Harper J, et al. The practice of compounding, associated compounding regulations, and the impact on dermatologists. J Drugs Dermatol. 2018;17(7):s17-s22. PMID: 30005109
  3. McCall KL, Lynch SE, Hageman EA, Williams KG. A quantitative and qualitative study of US FDA inspection reports of 503B outsourcing facilities. J Am Pharm Assoc (2003). 2026;66(5):103156. doi:10.1016/j.japh.2026.103156
  4. Jarow JP, Lemery S, Bugin K, Khozin S, Moscicki R. Expanded access of investigational drugs: the experience of the Center of Drug Evaluation and Research over a 10-year period. Ther Innov Regul Sci. 2016;50(6):705-709. doi:10.1177/2168479016656030
  5. Chapman CR, Shearston JA, Folkers KM, et al. Single-patient expanded access requests: IRB professionals' experiences and perspectives. AJOB Empir Bioeth. 2019;10(2):88-99. doi:10.1080/23294515.2019.1577192
  6. Agarwal R, Saltz LB. Understanding the Right to Try Act. Clin Cancer Res. 2020;26(2):340-343. doi:10.1158/1078-0432.CCR-19-2015
  7. Radley DC, Finkelstein SN, Stafford RS. Off-label prescribing among office-based physicians. Arch Intern Med. 2006;166(9):1021-1026. doi:10.1001/archinte.166.9.1021
  8. Vernino S, Bourne KM, Stiles LE, et al. Postural orthostatic tachycardia syndrome (POTS): state of the science and clinical care from a 2019 National Institutes of Health expert consensus meeting, part 1. Auton Neurosci. 2021;235:102828. doi:10.1016/j.autneu.2021.102828

Therapists 5.3

  1. Engelbert RH, Juul-Kristensen B, Pacey V, et al. The evidence-based rationale for physical therapy treatment of children, adolescents, and adults diagnosed with joint hypermobility syndrome/hypermobile Ehlers Danlos syndrome. Am J Med Genet C Semin Med Genet. 2017;175(1):158-167. doi:10.1002/ajmg.c.31545
  2. Vernino S, Bourne KM, Stiles LE, et al. Postural orthostatic tachycardia syndrome (POTS): state of the science and clinical care from a 2019 National Institutes of Health expert consensus meeting, part 1. Auton Neurosci. 2021;235:102828. doi:10.1016/j.autneu.2021.102828
  3. Corben LA, Collins V, Milne S, et al. Clinical management guidelines for Friedreich ataxia: best practice in rare diseases. Orphanet J Rare Dis. 2022;17(1):415. doi:10.1186/s13023-022-02568-3
  4. Aziz Q, Harris LA, Goodman BP, Simrén M, Shin A. AGA clinical practice update on GI manifestations and autonomic or immune dysfunction in hypermobile Ehlers-Danlos syndrome: expert review. Clin Gastroenterol Hepatol. 2025;23(8):1291-1302. doi:10.1016/j.cgh.2025.02.015
  5. Dumoulin C, Cacciari LP, Hay-Smith EJC. Pelvic floor muscle training versus no treatment, or inactive control treatments, for urinary incontinence in women. Cochrane Database Syst Rev. 2018;10(10):CD005654. doi:10.1002/14651858.CD005654.pub4

Counselor 5.4

  1. Ritchie JB, Welch BM, Allen CG, et al. Comparison of a cancer family history collection and risk assessment tool, ItRunsInMyFamily, with risk assessment by health-care professionals. Public Health Genomics. 2022;25(3-4):80-88. doi:10.1159/000520001
  2. Schwartz MD, Valdimarsdottir HB, Peshkin BN, et al. Randomized noninferiority trial of telephone versus in-person genetic counseling for hereditary breast and ovarian cancer. J Clin Oncol. 2014;32(7):618-626. doi:10.1200/JCO.2013.51.3226
  3. US Preventive Services Task Force; Barry MJ, Nicholson WK, Silverstein M, et al. Screening for depression and suicide risk in adults: US Preventive Services Task Force recommendation statement. JAMA. 2023;329(23):2057-2067. doi:10.1001/jama.2023.9297
  4. Hoskovec JM, Bennett RL, Carey ME, et al. Projecting the supply and demand for certified genetic counselors: a workforce study. J Genet Couns. 2018;27(1):16-20. doi:10.1007/s10897-017-0158-8

Resource 5.5

  1. Aziz Q, Harris LA, Goodman BP, Simrén M, Shin A. AGA clinical practice update on GI manifestations and autonomic or immune dysfunction in hypermobile Ehlers-Danlos syndrome: expert review. Clin Gastroenterol Hepatol. 2025;23(8):1291-1302. doi:10.1016/j.cgh.2025.02.015
  2. Vockley J, Andersson HC, Antshel KM, et al. Phenylalanine hydroxylase deficiency: diagnosis and management guideline. Genet Med. 2014;16(2):188-200. doi:10.1038/gim.2013.157
  3. Relling MV, Klein TE. CPIC: Clinical Pharmacogenetics Implementation Consortium of the Pharmacogenomics Research Network. Clin Pharmacol Ther. 2011;89(3):464-467. doi:10.1038/clpt.2010.279
  4. Rose SL, Highland J, Karafa MT, Joffe S. Patient advocacy organizations, industry funding, and conflicts of interest. JAMA Intern Med. 2017;177(3):344-350. doi:10.1001/jamainternmed.2016.8443
Colorado Care Network. Citations. Version 2026-10-30.