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Research ArticleSpecial Communication

The “New Genetics” in Clinical Practice: A Brief Primer

Aubrey Milunsky
The Journal of the American Board of Family Medicine May 2017, 30 (3) 377-379; DOI: https://doi.org/10.3122/jabfm.2017.03.160316
Aubrey Milunsky
From the Center for Human Genetics, Cambridge, MA; and the Department of Obstetrics and Gynecology, Tufts University School of Medicine, Boston.
MD, DSc, FRCP
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References

  1. 1.↵
    1. Stenson PD,
    2. Mort M,
    3. Ball EV,
    4. Shaw K,
    5. Phillips A,
    6. Cooper DN
    . The human gene mutation database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing, and personalized genomic medicine. Hum Genet 2014;133:1–9.
    OpenUrlCrossRefPubMed
  2. 2.↵
    1. Boycott KM,
    2. Vanstone MR,
    3. Bulman DE,
    4. MacKenzie AE
    . Rare-disease genetics in the era of next-generation sequencing: discovery to translation. Nat Rev Genet 2013:14:681–91.
    OpenUrlCrossRefPubMed
  3. 3.↵
    1. Milunsky A,
    2. Milunsky JM
    1. Milunsky A,
    2. Milunsky JM
    . Genetic counseling: preconception, prenatal and perinatal. In: Milunsky A, Milunsky JM, editors. Genetic disorders and the fetus: diagnosis, prevention and treatment. 7th ed. Hoboken, NJ: Wiley-Blackwell; 2016. p. 1–67.
  4. 4.↵
    1. Abecasis GR,
    2. Altshuler D,
    3. Auton A,
    4. et al
    1000 Genomes Project Consortium; Abecasis GR, Altshuler D, Auton A, et al. A map of human genome variation from population-scale sequencing. Nature 2010;467:1061–73.
    OpenUrlCrossRefPubMedWeb of Science
  5. 5.↵
    1. Richards S,
    2. Aziz N,
    3. Bale S,
    4. et al
    ; ACMG Laboratory Quality Assurance Committee. 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;17:405–24.
    OpenUrlCrossRefPubMed
  6. 6.↵
    1. Matthijs G,
    2. Souche E,
    3. Alders M,
    4. et al
    ; EuroGentest; European Society of Human Genetics. Guidelines for diagnostic next-generation sequencing. Eur J Hum Genet 2016;24:2–5.
    OpenUrlCrossRefPubMed
  7. 7.↵
    1. Abulí A,
    2. Boada M,
    3. Rodríguez-Santiago B,
    4. et al
    . NGS-based assay for the identification of individuals carrying recessive genetic mutations in reproductive medicine. Hum Mutat 2016;37:516–23.
    OpenUrl
  8. 8.↵
    1. Lazarin GA,
    2. Haque IS,
    3. Nazareth S,
    4. et al
    . An empirical estimate of carrier frequencies for 400+ causal Mendelian variants: Results from an ethnically diverse clinical sample of 23,453 individuals. Genet Med 2013;15:178–86.
    OpenUrlCrossRefPubMed
  9. 9.↵
    1. Grody WW,
    2. Thompson BH,
    3. Gregg AR,
    4. et al
    . ACMG position statement on prenatal/preconception expanded carrier screening. Genet Med 2013;15:482–3.
    OpenUrlCrossRefPubMed
  10. 10.↵
    Qiagen. Human Gene Mutation Database, 2016.1. Available at: http://www.biobase-international.com/product/hgmd. Accessed March 17, 2017.
  11. 11.↵
    1. Yang Y,
    2. Muzny DM,
    3. Xia F,
    4. et al
    . Molecular findings among patients referred for clinical whole-exome sequencing. JAMA 2014;312:1870–9.
    OpenUrlCrossRefPubMed
  12. 12.↵
    1. Posey JE,
    2. Harel T,
    3. Liu P,
    4. et al
    . Resolution of disease phenotypes resulting from multilocus genomic variation. N Engl J Med 2017;376:21–31.
    OpenUrl
  13. 13.↵
    1. Kalia SS,
    2. Adelman K,
    3. Bale SJ,
    4. et al
    . Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update(ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. Genet Med 2017;19:249–255.
    OpenUrl
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The Journal of the American Board of Family     Medicine: 30 (3)
The Journal of the American Board of Family Medicine
Vol. 30, Issue 3
May-June 2017
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The “New Genetics” in Clinical Practice: A Brief Primer
Aubrey Milunsky
The Journal of the American Board of Family Medicine May 2017, 30 (3) 377-379; DOI: 10.3122/jabfm.2017.03.160316

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The “New Genetics” in Clinical Practice: A Brief Primer
Aubrey Milunsky
The Journal of the American Board of Family Medicine May 2017, 30 (3) 377-379; DOI: 10.3122/jabfm.2017.03.160316
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  • Article
    • Abstract
    • Single-Gene Sequencing
    • Variants of Unknown Significance
    • Same Genes, Different Diseases
    • Rare Diseases: Next-Generation Sequencing Gene Panels
    • Same Phenotypic Disease, Many Different Genes: WES
    • Dual Diagnoses and Incidental Detection of Genetic Disorders
    • Conclusion
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Keywords

  • Genes
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  • Mutation
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