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Editorials |

Diagnosis of Adult Hereditary Pulmonary Disease and the Role of Genetic Testing: It Is All About the Genes

Don Liss, MD; Joanne Armstrong, MD
Author and Funding Information

From Aetna Inc.

Correspondence to: Don Liss, MD, Aetna, 980 Jolly Rd, Mail Stop U12N, Blue Bell, PA 19422; e-mail: LissD@aetna.com


Financial/nonfinancial disclosures: The authors have reported to CHEST the following conflicts of interest: Drs Liss and Armstrong are employees of Aetna Inc.

Reproduction of this article is prohibited without written permission from the American College of Chest Physicians (www.chestpubs.org/site/misc/reprints.xhtml).


© 2010 American College of Chest Physicians


Chest. 2010;137(4):748-750. doi:10.1378/chest.09-2488
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Profound advances in molecular biology have enabled the identification of the genetic bases of numerous diseases and have resulted in the development of specific tests to conclusively diagnose conditions for which clinical judgment was previously the only means for establishing a diagnosis. In this issue of CHEST (see page 976), Shah et al1 review the role of genetic testing in adults with hereditary pulmonary disease and provide clinicians with practical information about when genetic testing is helpful in establishing a definitive diagnosis and informing treatment decisions. This review provides welcome material for those of us whose formal training in genetics predates the discovery of many of the gene mutations described. It is especially helpful because the rate of new genetic discovery has outpaced most clinicians’ ability to keep up. Today, there are > 1,600 conditions for which a genetic test is available, compared with only 100 in 1993.2 In a recent survey of clinicians not trained in genetics, however, 72% rated their knowledge of genetics as fair to poor.3 An important challenge for clinicians is to understand how and when to order these tests such that useful information leading to improved outcomes is derived. Probably the most familiar examples of testing performed in adult pulmonary medicine are confirming a diagnosis of cystic fibrosis in an individual with an intermediate sweat chloride test and genotyping for individuals with suspected α1-antitrypsin (AAT) deficiency for whom an abnormal or borderline AAT level has been confirmed. Other less familiar indications for genetic testing, such as to inform family planning decisions, as in the case of pulmonary lymphangioleiomyomatosis or other even rarer conditions, requires a more nuanced understanding of genetics and may be more appropriately done in collaboration with clinicians trained in genetics. In other cases, such as the prevention of hereditary pulmonary diseases, the management of the genetic aspects of the disease will primarily be coordinated outside the setting of pulmonary care, but familiarity with these technologies is still required by pulmonary physicians. For example, preimplantation genetic diagnosis (PGD) techniques are now used to test embryos obtained through in vitro fertilization cycles for serious genetic mutations identified in their affected parents. Embryos shown to be free of the genetic mutation are transferred back to the uterus. Successful PGD for cystic fibrosis was first reported in 1992.4

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