{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,28]],"date-time":"2026-01-28T21:38:05Z","timestamp":1769636285618,"version":"3.49.0"},"reference-count":117,"publisher":"American Association for the Advancement of Science (AAAS)","issue":"4658","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Science"],"published-print":{"date-parts":[[1984,7,13]]},"abstract":"<jats:p>\n            Genetic screening is a systematic search in the population for persons of certain genotypes. The usual purpose is to detect persons who themselves or whose offspring are at risk for genetic diseases or genetically determined susceptibilities to environmental agents. Is genetic screening a marvel about to free us from the scourge of genetic disease or a menace about to invade our privacy and determine who may reproduce? There are three different types of genetic screening.\n            <jats:italic>Newborn screening<\/jats:italic>\n            identifies serious genetic disease at birth, permitting prompt treatment to prevent mental and physical retardation.\n            <jats:italic>Fetal screening<\/jats:italic>\n            and prenatal diagnosis identify genetic disease in the fetus permitting selective termination of pregnancy and the opportunity to have children free of defects detectable in utero.\n            <jats:italic>Carrier screening<\/jats:italic>\n            identifies individuals heterozygous for a gene for a serious recessive disease who may be at risk for affected offspring. The challenge to society is to provide (by way of cost-effective programs) expert services, including genetic counseling and follow-up, to all who may benefit, to ensure confidentiality and freedom of choice, and to avoid misunderstanding and stigmatization. It is recommended that the objective of screening programs should be to maximize the options available to families at risk rather than to reduce the incidence of genetic diseases. Whenever possible, the providers of these services should be the providers of primary health care. Urgently needed are a greater awareness of avoidable genetic diseases on the part of primary care providers and efforts to familiarize the public with the basic concepts of human genetics through the public school system.\n          <\/jats:p>","DOI":"10.1126\/science.6729472","type":"journal-article","created":{"date-parts":[[2006,10,5]],"date-time":"2006-10-05T19:41:59Z","timestamp":1160077319000},"page":"138-144","source":"Crossref","is-referenced-by-count":33,"title":["Genetic Screening: Marvel or Menace?"],"prefix":"10.1126","volume":"225","author":[{"given":"Peter T.","family":"Rowley","sequence":"first","affiliation":[{"name":"University of Rochester, Rochester, New York 14642."}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"221","reference":[{"key":"e_1_2_1_1_1","first-page":"9","year":"1975","unstructured":"GENETIC SCREENING PR: 9 (1975).","journal-title":"GENETIC SCREENING PR"},{"key":"e_1_2_1_2_1","first-page":"162","year":"1975","unstructured":"GENETIC SCREENING PR: 162 (1975).","journal-title":"GENETIC SCREENING PR"},{"key":"e_1_2_1_3_1","first-page":"188","year":"1975","unstructured":"GENETIC SCREENING PR: 188 (1975).","journal-title":"GENETIC SCREENING PR"},{"key":"e_1_2_1_4_1","first-page":"1095","volume":"2","year":"1981","unstructured":"LANCET 2: 1095 (1981).","journal-title":"LANCET"},{"key":"e_1_2_1_5_1","doi-asserted-by":"crossref","first-page":"1414","DOI":"10.1056\/NEJM197412262912614","volume":"291","year":"1974","unstructured":"NEW ENGLAND JOURNAL OF MEDICINE 291: 1414 (1974).","journal-title":"NEW ENGLAND JOURNAL OF MEDICINE"},{"key":"e_1_2_1_6_1","unstructured":"SCREENING COUNSELING (1983)."},{"key":"e_1_2_1_7_1","doi-asserted-by":"crossref","first-page":"673","DOI":"10.1016\/0002-9378(81)90483-X","volume":"139","year":"1981","unstructured":"ADAMS, M.M., UTILIZATION OF PRENATAL GENETIC DIAGNOSIS IN WOMEN 35 YEARS OF AGE AND OLDER IN THE UNITED-STATES, 1977 TO 1978, AMERICAN JOURNAL OF OBSTETRICS AND GYNECOLOGY 139: 673 (1981).","journal-title":"AMERICAN JOURNAL OF OBSTETRICS AND GYNECOLOGY"},{"key":"e_1_2_1_8_1","doi-asserted-by":"crossref","first-page":"758","DOI":"10.1001\/jama.1981.03320070042022","volume":"246","year":"1981","unstructured":"ADAMS, M.M., DOWNS-SYNDROME - RECENT TRENDS IN THE UNITED-STATES, JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION 246: 758 (1981).","journal-title":"JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION"},{"key":"e_1_2_1_9_1","doi-asserted-by":"crossref","first-page":"1401","DOI":"10.2105\/AJPH.72.12.1401","volume":"72","year":"1982","unstructured":"ANNAS, G, MANDATORY PKU SCREENING - THE OTHER SIDE OF THE LOOKING-GLASS, AMERICAN JOURNAL OF PUBLIC HEALTH 72: 1401 (1982).","journal-title":"AMERICAN JOURNAL OF PUBLIC HEALTH"},{"key":"e_1_2_1_10_1","doi-asserted-by":"crossref","first-page":"845","DOI":"10.1016\/S0022-3476(82)80500-3","volume":"100","year":"1982","unstructured":"ANTONARAKIS, S.E., GENETIC-DISEASES - DIAGNOSIS BY RESTRICTION ENDONUCLEASE ANALYSIS, JOURNAL OF PEDIATRICS 100: 845 (1982).","journal-title":"JOURNAL OF PEDIATRICS"},{"key":"e_1_2_1_11_1","first-page":"137","volume":"79","year":"1982","unstructured":"ANTONARAKIS, S.E., NONRANDOM ASSOCIATION OF POLYMORPHIC RESTRICTION SITES IN THE BETA-GLOBIN GENE-CLUSTER, PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA-BIOLOGICAL SCIENCES 79: 137 (1982).","journal-title":"PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA-BIOLOGICAL SCIENCES"},{"key":"e_1_2_1_12_1","doi-asserted-by":"crossref","first-page":"1054","DOI":"10.1056\/NEJM198305053081803","volume":"308","year":"1983","unstructured":"BOEHM, C.D., PRENATAL-DIAGNOSIS USING DNA POLYMORPHISMS - REPORT ON 95 PREGNANCIES AT RISK FOR SICKLE-CELL DISEASE OR BETA-THALASSEMIA, NEW ENGLAND JOURNAL OF MEDICINE 308: 1054 (1983).","journal-title":"NEW ENGLAND JOURNAL OF MEDICINE"},{"key":"e_1_2_1_13_1","first-page":"314","volume":"32","year":"1980","unstructured":"BOTSTEIN, D, CONSTRUCTION OF A GENETIC-LINKAGE MAP IN MAN USING RESTRICTION FRAGMENT LENGTH POLYMORPHISMS, AMERICAN JOURNAL OF HUMAN GENETICS 32: 314 (1980).","journal-title":"AMERICAN JOURNAL OF HUMAN GENETICS"},{"key":"e_1_2_1_14_1","unstructured":"BUSH J.W. 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