Genetic diagnosis by PCR

Homstrom s, Abens J, Boman J, Grankvist O, Johansson B, Landegren U, Levi R, Marke LA, Lerup O
Record ID 31995000043
Authors' objectives:

To provide an update on the utility and applications of PCR technologyin medicine. Economic and ethical aspects of PCR are also considered.

Authors' results and conclusions: PCR (Polymerase Chain Reaction), a gene amplification technique, is currently the most well known of the genetic diagnostic methods. The results of the survey confirm that PCR technology has already disseminated widely in health care. PCR is used routinely in many places, but almost always as a complement to other diagnostic methods. Inherited Disease - In about 80% of suspected cases for genetic disease, PCR has replaced conventional diagnostic methods for determining haemophilia, alpha-I-antitrypsin deficiency, phenylketonuria, cystic fibrosis and Duchenne's muscular dystrophy. In the future, PCR technology will make it possible for more comprehensive genetic counselling and to track genetic risk factors for some cardiovascular diseases and psychological disorders. Infectious Disease - Diagnosis of HIV and tuberculosis was identified as suitable for PCR technology, but antibody testing continues to be the most common method of diagnosis. Current tests for herpes simplex, hepatitis C and papillomavirus may be completely replaced by PCR technology. Tissue Typing - PCR is expected to enter routine clinical use for tissue typing. PCR was perceived to be more sensitive and exact than current methods. Cancer Diagnosis - PCR is expected to complement, not replace, current methods, particularly classification of cells to determine the spread of cancer. PCR is felt to be more sensitive, faster and less expensive. Forensic Medicine - It is anticipated that PCR will be used in approximately 50% of all examinations. It is faster and more sensitive than other methods. Economic Aspects - Laboratory costs are expected to increase with use of PCR. Medical Benefits - It is expected that PCR will provide better information for diagnosis and improve the ability to evaluate different treatment methods. Problems - Because PCR is extremely sensitive, there is a risk for an increased number of inaccurate results. PCR raises a number of ethical issues relating to amniocentesis, confidentiality and personal integrity.
Authors' recommendations: No recommendations - state of the art descriptive document.
Project Status: Completed
URL for project:
Year Published: 1993
English language abstract: An English language summary is available
Publication Type: Not Assigned
Country: Sweden
MeSH Terms
  • Polymerase Chain Reaction
  • Prenatal Diagnosis
Organisation Name: Swedish Agency for Health Technology Assessment and Assessment of Social Services
Contact Address: P.O. Box 3657, SE-103 59 Stockholm, Sweden. Tel: +46 8 4123200, Fax: +46 8 4113260
Contact Name:
Contact Email:
Copyright: The Swedish Council on Technology Assessment in Health Care
This is a bibliographic record of a published health technology assessment from a member of INAHTA or other HTA producer. No evaluation of the quality of this assessment has been made for the HTA database.