Genomics & Precision Health Database| the Genomics & Health Impact Weekly Sca|PHGKB

Genomics & Precision Health Database| the Genomics & Health Impact Weekly Sca|PHGKB

Publication Date: Apr 2, 2020

Human Genomics across the Lifespan

• Birth Defects/Child Health
• Cancer
• Chronic Disease
• Ethical, Legal and Social Issues (ELSI)
• General Practice
• Heart, Lung, Blood and Sleep Diseases
• Newborn Screening
• Pharmacogenomics
• Reproductive Health

Birth Defects and Child Health

• [Result of carrier screening for spinal muscular atrophy among 3049 reproductive-age individuals from Yunnan region].
  Zhang Yinhong et al. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2020 Apr 37(4) 384-388
• Molecular genetic diagnostics of hypogonadotropic hypogonadism: from panel design towards result interpretation in clinical practice.
  Butz Henriett et al. Human genetics 2020 Mar

Cancer

• Report From the International Society of Urological Pathology (ISUP) Consultation Conference on Molecular Pathology of Urogenital Cancers: IV: Current and Future Utilization of Molecular-Genetic Tests for Testicular Germ Cell Tumors.
  Looijenga Leendert H J et al. The American journal of surgical pathology 2020 Mar
• Prognostic value and therapeutic implications of expanded molecular testing for resected early stage lung adenocarcinoma.
  Kneuertz Peter J et al. Lung cancer (Amsterdam, Netherlands) 2020 Mar 14360-66
• Assessing the impact of the 2018 American Society of Clinical Oncology/College of American Pathologists recommendations on human epidermal growth factor receptor 2 testing by fluorescence in situ hybridization in breast carcinoma.
  Murray Ciara et al. Virchows Archiv : an international journal of pathology 2020 Mar 476(3) 367-372
• Comparison of commonly used solid tumor targeted gene sequencing panels for estimating tumor mutation burden shows analytical and prognostic concordance within the cancer genome atlas cohort.
  Bevins Nicholas et al. Journal for immunotherapy of cancer 2020 Mar 8(1)
• Prognostic and predictive impact of genetic markers in patients with CLL treated with obinutuzumab and venetoclax.
  Tausch Eugen et al. Blood 2020 Mar
• Clinical predictors of a positive test result in patients undergoing genetic evaluation for a hereditary kidney cancer syndrome.
  Kokorovic Andrea et al. Canadian Urological Association journal = Journal de l'Association des urologues du Canada 2020 Mar
• Prospective Evaluation of Universal BRCA Testing for Women With Triple-Negative Breast Cancer.
  Emborgo Trisha S et al. JNCI cancer spectrum 2020 Apr 4(2) pkaa002
• Ethnic disparities in the frequency of cancer reported in family histories.
  Maves Heather et al. Journal of genetic counseling 2020 Mar
• Public perception of predictive cancer genetic testing and research in Oregon.
  Alvord Teala W et al. Journal of genetic counseling 2020 Mar
• Prognostic value of immune-related genes in the tumor microenvironment of lung adenocarcinoma and lung squamous cell carcinoma.
  Qu Yan et al. Aging 2020 Mar 12

Chronic Disease

• Disclosing genetic risk for Alzheimer's dementia to individuals with mild cognitive impairment.
  Christensen Kurt D et al. Alzheimer's & dementia (New York, N. Y.) 2020 6(1) e12002

Ethical, Legal and Social Issues (ELSI)

• Governing the futures of non-invasive prenatal testing: An exploration of social acceptability using the Delphi method.
  Dupras Charles et al. Social science & medicine (1982) 2020 Mar 112930

General Practice

• Participatory design of a personalized genetic risk tool to promote behavioral health.
  Ramsey Alex T et al. Cancer prevention research (Philadelphia, Pa.) 2020 Mar
• A Framework for Advancing Precision Medicine in Clinical Trials for Mental Disorders.
  Lenze Eric J et al. JAMA psychiatry 2020 Mar

Heart, Lung, Blood and Sleep Diseases

• Incorporation of genetic testing significantly increases the number of individuals diagnosed with familial hypercholesterolemia.
  Brown Emily E et al. Journal of clinical lipidology 2020 Mar
• Why patients with familial hypercholesterolemia are at high cardiovascular risk? Beyond LDL-C levels.
  Bianconi Vanessa et al. Trends in cardiovascular medicine 2020 Mar
• Perspectives from individuals with familial hypercholesterolemia on direct contact in cascade screening.
  Schwiter Rachel et al. Journal of genetic counseling 2020 Mar
• Creation and utility of 'Boston Minority Genetic Counselors'.
  Berro Tala et al. Journal of genetic counseling 2020 Mar
• When do athletes benefit from cardiac genetic testing?
  Semsarian Christopher et al. British journal of sports medicine 2020 Mar

Newborn Screening

• Concurrent hearing and genetic screening in a general newborn population.
  Guo Ling et al. Human genetics 2020 Apr 139(4) 521-530

Pharmacogenomics

• Identification of populations likely to benefit from pharmacogenomic testing.
  Heise Craig William et al. Pharmacogenetics and genomics 2020 Mar
• Physicians' Attitudes and Ethical Obligations to Pharmacogenetic Testing.
  Muflih Suhaib et al. Journal of multidisciplinary healthcare 2020 13249-258

Reproductive Health

• Genetic testing in male infertility - reassessing screening thresholds.
  Liu James L et al. Current opinion in urology 2020 May 30(3) 317-323
• Management of Women With Phenylalanine Hydroxylase Deficiency (Phenylketonuria): ACOG Committee Opinion Summary, Number 802.
  et al. Obstetrics and gynecology 2020 Apr 135(4) 987-988
• Pre-implantation genetic testing alters the sex ratio: an analysis of 91,805 embryo transfer cycles.
  Shaia Kathryn et al. Journal of assisted reproduction and genetics 2020 Mar

Disclaimer: Articles listed in Health Impact Weekly Scan are selected by the CDC Office of Public Health Genomics to provide current awareness of the scientific literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the Clips, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.