Education and testing strategy for large-scale cystic fibrosis carrier screening
Abstract Population-based screening for cystic fibrosis carrier mutations presents a number of challenges for genetic counselors, owing primarily to the inability of current DNA testing technology to identify all possible mutations and the difficulty involved in conveying the concept of residual ris...
Ausführliche Beschreibung
Gespeichert in:
| Autor*in: |
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| Format: |
E-Artikel |
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| Sprache: |
Englisch |
| Erschienen: |
1994 |
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| Umfang: |
11 |
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| Reproduktion: |
Springer Online Journal Archives 1860-2002 |
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| Übergeordnetes Werk: |
in: Journal of genetic counseling - 1992, 3(1994) vom: Apr., Seite 279-289 |
| Übergeordnetes Werk: |
volume:3 ; year:1994 ; month:04 ; pages:279-289 ; extent:11 |
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| 520 | |a Abstract Population-based screening for cystic fibrosis carrier mutations presents a number of challenges for genetic counselors, owing primarily to the inability of current DNA testing technology to identify all possible mutations and the difficulty involved in conveying the concept of residual risk to those patients who test negative. To address these issues, we are conducting a pilot study, as part of a consortium established by the National Center for Human Genome Research, to explore the efficacy, acceptance, and psychosocial impact of various approaches to carrier screening in an ethnically diverse Southern California population. This article reports the patient instructional and screening strategies we developed in the initial phase of the project in order to optimize our chances of answering these questions and delivering this service on a large scale. | ||
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| 700 | 1 | |a Tatsugawa, Zina H. |4 oth | |
| 700 | 1 | |a Fox, Michelle A. |4 oth | |
| 700 | 1 | |a Fang, Carolyn Y. |4 oth | |
| 700 | 1 | |a Novak, Jessica M. |4 oth | |
| 700 | 1 | |a Cantor, Rita M. |4 oth | |
| 700 | 1 | |a Bass, Harold N. |4 oth | |
| 700 | 1 | |a Dunkel-Schetter, Christine |4 oth | |
| 700 | 1 | |a Crandall, Barbara F. |4 oth | |
| 700 | 1 | |a Grody, Wayne W. |4 oth | |
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(DE-627)NLEJ197666795 DE-627 ger DE-627 rakwb eng Education and testing strategy for large-scale cystic fibrosis carrier screening 1994 11 nicht spezifiziert zzz rdacontent nicht spezifiziert z rdamedia nicht spezifiziert zu rdacarrier Abstract Population-based screening for cystic fibrosis carrier mutations presents a number of challenges for genetic counselors, owing primarily to the inability of current DNA testing technology to identify all possible mutations and the difficulty involved in conveying the concept of residual risk to those patients who test negative. To address these issues, we are conducting a pilot study, as part of a consortium established by the National Center for Human Genome Research, to explore the efficacy, acceptance, and psychosocial impact of various approaches to carrier screening in an ethnically diverse Southern California population. This article reports the patient instructional and screening strategies we developed in the initial phase of the project in order to optimize our chances of answering these questions and delivering this service on a large scale. Springer Online Journal Archives 1860-2002 Tatsugawa, Zina H. oth Fox, Michelle A. oth Fang, Carolyn Y. oth Novak, Jessica M. oth Cantor, Rita M. oth Bass, Harold N. oth Dunkel-Schetter, Christine oth Crandall, Barbara F. oth Grody, Wayne W. oth in Journal of genetic counseling 1992 3(1994) vom: Apr., Seite 279-289 (DE-627)NLEJ188991565 (DE-600)2016899-8 1573-3599 nnns volume:3 year:1994 month:04 pages:279-289 extent:11 http://dx.doi.org/10.1007/BF01412373 GBV_USEFLAG_U ZDB-1-SOJ GBV_NL_ARTICLE AR 3 1994 4 279-289 11 |
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(DE-627)NLEJ197666795 DE-627 ger DE-627 rakwb eng Education and testing strategy for large-scale cystic fibrosis carrier screening 1994 11 nicht spezifiziert zzz rdacontent nicht spezifiziert z rdamedia nicht spezifiziert zu rdacarrier Abstract Population-based screening for cystic fibrosis carrier mutations presents a number of challenges for genetic counselors, owing primarily to the inability of current DNA testing technology to identify all possible mutations and the difficulty involved in conveying the concept of residual risk to those patients who test negative. To address these issues, we are conducting a pilot study, as part of a consortium established by the National Center for Human Genome Research, to explore the efficacy, acceptance, and psychosocial impact of various approaches to carrier screening in an ethnically diverse Southern California population. This article reports the patient instructional and screening strategies we developed in the initial phase of the project in order to optimize our chances of answering these questions and delivering this service on a large scale. Springer Online Journal Archives 1860-2002 Tatsugawa, Zina H. oth Fox, Michelle A. oth Fang, Carolyn Y. oth Novak, Jessica M. oth Cantor, Rita M. oth Bass, Harold N. oth Dunkel-Schetter, Christine oth Crandall, Barbara F. oth Grody, Wayne W. oth in Journal of genetic counseling 1992 3(1994) vom: Apr., Seite 279-289 (DE-627)NLEJ188991565 (DE-600)2016899-8 1573-3599 nnns volume:3 year:1994 month:04 pages:279-289 extent:11 http://dx.doi.org/10.1007/BF01412373 GBV_USEFLAG_U ZDB-1-SOJ GBV_NL_ARTICLE AR 3 1994 4 279-289 11 |
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(DE-627)NLEJ197666795 DE-627 ger DE-627 rakwb eng Education and testing strategy for large-scale cystic fibrosis carrier screening 1994 11 nicht spezifiziert zzz rdacontent nicht spezifiziert z rdamedia nicht spezifiziert zu rdacarrier Abstract Population-based screening for cystic fibrosis carrier mutations presents a number of challenges for genetic counselors, owing primarily to the inability of current DNA testing technology to identify all possible mutations and the difficulty involved in conveying the concept of residual risk to those patients who test negative. To address these issues, we are conducting a pilot study, as part of a consortium established by the National Center for Human Genome Research, to explore the efficacy, acceptance, and psychosocial impact of various approaches to carrier screening in an ethnically diverse Southern California population. This article reports the patient instructional and screening strategies we developed in the initial phase of the project in order to optimize our chances of answering these questions and delivering this service on a large scale. Springer Online Journal Archives 1860-2002 Tatsugawa, Zina H. oth Fox, Michelle A. oth Fang, Carolyn Y. oth Novak, Jessica M. oth Cantor, Rita M. oth Bass, Harold N. oth Dunkel-Schetter, Christine oth Crandall, Barbara F. oth Grody, Wayne W. oth in Journal of genetic counseling 1992 3(1994) vom: Apr., Seite 279-289 (DE-627)NLEJ188991565 (DE-600)2016899-8 1573-3599 nnns volume:3 year:1994 month:04 pages:279-289 extent:11 http://dx.doi.org/10.1007/BF01412373 GBV_USEFLAG_U ZDB-1-SOJ GBV_NL_ARTICLE AR 3 1994 4 279-289 11 |
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(DE-627)NLEJ197666795 DE-627 ger DE-627 rakwb eng Education and testing strategy for large-scale cystic fibrosis carrier screening 1994 11 nicht spezifiziert zzz rdacontent nicht spezifiziert z rdamedia nicht spezifiziert zu rdacarrier Abstract Population-based screening for cystic fibrosis carrier mutations presents a number of challenges for genetic counselors, owing primarily to the inability of current DNA testing technology to identify all possible mutations and the difficulty involved in conveying the concept of residual risk to those patients who test negative. To address these issues, we are conducting a pilot study, as part of a consortium established by the National Center for Human Genome Research, to explore the efficacy, acceptance, and psychosocial impact of various approaches to carrier screening in an ethnically diverse Southern California population. This article reports the patient instructional and screening strategies we developed in the initial phase of the project in order to optimize our chances of answering these questions and delivering this service on a large scale. Springer Online Journal Archives 1860-2002 Tatsugawa, Zina H. oth Fox, Michelle A. oth Fang, Carolyn Y. oth Novak, Jessica M. oth Cantor, Rita M. oth Bass, Harold N. oth Dunkel-Schetter, Christine oth Crandall, Barbara F. oth Grody, Wayne W. oth in Journal of genetic counseling 1992 3(1994) vom: Apr., Seite 279-289 (DE-627)NLEJ188991565 (DE-600)2016899-8 1573-3599 nnns volume:3 year:1994 month:04 pages:279-289 extent:11 http://dx.doi.org/10.1007/BF01412373 GBV_USEFLAG_U ZDB-1-SOJ GBV_NL_ARTICLE AR 3 1994 4 279-289 11 |
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(DE-627)NLEJ197666795 DE-627 ger DE-627 rakwb eng Education and testing strategy for large-scale cystic fibrosis carrier screening 1994 11 nicht spezifiziert zzz rdacontent nicht spezifiziert z rdamedia nicht spezifiziert zu rdacarrier Abstract Population-based screening for cystic fibrosis carrier mutations presents a number of challenges for genetic counselors, owing primarily to the inability of current DNA testing technology to identify all possible mutations and the difficulty involved in conveying the concept of residual risk to those patients who test negative. To address these issues, we are conducting a pilot study, as part of a consortium established by the National Center for Human Genome Research, to explore the efficacy, acceptance, and psychosocial impact of various approaches to carrier screening in an ethnically diverse Southern California population. This article reports the patient instructional and screening strategies we developed in the initial phase of the project in order to optimize our chances of answering these questions and delivering this service on a large scale. Springer Online Journal Archives 1860-2002 Tatsugawa, Zina H. oth Fox, Michelle A. oth Fang, Carolyn Y. oth Novak, Jessica M. oth Cantor, Rita M. oth Bass, Harold N. oth Dunkel-Schetter, Christine oth Crandall, Barbara F. oth Grody, Wayne W. oth in Journal of genetic counseling 1992 3(1994) vom: Apr., Seite 279-289 (DE-627)NLEJ188991565 (DE-600)2016899-8 1573-3599 nnns volume:3 year:1994 month:04 pages:279-289 extent:11 http://dx.doi.org/10.1007/BF01412373 GBV_USEFLAG_U ZDB-1-SOJ GBV_NL_ARTICLE AR 3 1994 4 279-289 11 |
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Abstract Population-based screening for cystic fibrosis carrier mutations presents a number of challenges for genetic counselors, owing primarily to the inability of current DNA testing technology to identify all possible mutations and the difficulty involved in conveying the concept of residual risk to those patients who test negative. To address these issues, we are conducting a pilot study, as part of a consortium established by the National Center for Human Genome Research, to explore the efficacy, acceptance, and psychosocial impact of various approaches to carrier screening in an ethnically diverse Southern California population. This article reports the patient instructional and screening strategies we developed in the initial phase of the project in order to optimize our chances of answering these questions and delivering this service on a large scale. |
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Abstract Population-based screening for cystic fibrosis carrier mutations presents a number of challenges for genetic counselors, owing primarily to the inability of current DNA testing technology to identify all possible mutations and the difficulty involved in conveying the concept of residual risk to those patients who test negative. To address these issues, we are conducting a pilot study, as part of a consortium established by the National Center for Human Genome Research, to explore the efficacy, acceptance, and psychosocial impact of various approaches to carrier screening in an ethnically diverse Southern California population. This article reports the patient instructional and screening strategies we developed in the initial phase of the project in order to optimize our chances of answering these questions and delivering this service on a large scale. |
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Abstract Population-based screening for cystic fibrosis carrier mutations presents a number of challenges for genetic counselors, owing primarily to the inability of current DNA testing technology to identify all possible mutations and the difficulty involved in conveying the concept of residual risk to those patients who test negative. To address these issues, we are conducting a pilot study, as part of a consortium established by the National Center for Human Genome Research, to explore the efficacy, acceptance, and psychosocial impact of various approaches to carrier screening in an ethnically diverse Southern California population. This article reports the patient instructional and screening strategies we developed in the initial phase of the project in order to optimize our chances of answering these questions and delivering this service on a large scale. |
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<?xml version="1.0" encoding="UTF-8"?><collection xmlns="http://www.loc.gov/MARC21/slim"><record><leader>01000caa a22002652 4500</leader><controlfield tag="001">NLEJ197666795</controlfield><controlfield tag="003">DE-627</controlfield><controlfield tag="005">20210705222444.0</controlfield><controlfield tag="007">cr uuu---uuuuu</controlfield><controlfield tag="008">070527s1994 xx |||||o 00| ||eng c</controlfield><datafield tag="035" ind1=" " ind2=" "><subfield code="a">(DE-627)NLEJ197666795</subfield></datafield><datafield tag="040" ind1=" " ind2=" "><subfield code="a">DE-627</subfield><subfield code="b">ger</subfield><subfield code="c">DE-627</subfield><subfield code="e">rakwb</subfield></datafield><datafield tag="041" ind1=" " ind2=" "><subfield code="a">eng</subfield></datafield><datafield tag="245" ind1="1" ind2="0"><subfield code="a">Education and testing strategy for large-scale cystic fibrosis carrier screening</subfield></datafield><datafield tag="264" ind1=" " ind2="1"><subfield code="c">1994</subfield></datafield><datafield tag="300" ind1=" " ind2=" "><subfield code="a">11</subfield></datafield><datafield tag="336" ind1=" " ind2=" "><subfield code="a">nicht spezifiziert</subfield><subfield code="b">zzz</subfield><subfield code="2">rdacontent</subfield></datafield><datafield tag="337" ind1=" " ind2=" "><subfield code="a">nicht spezifiziert</subfield><subfield code="b">z</subfield><subfield code="2">rdamedia</subfield></datafield><datafield tag="338" ind1=" " ind2=" "><subfield code="a">nicht spezifiziert</subfield><subfield code="b">zu</subfield><subfield code="2">rdacarrier</subfield></datafield><datafield tag="520" ind1=" " ind2=" "><subfield code="a">Abstract Population-based screening for cystic fibrosis carrier mutations presents a number of challenges for genetic counselors, owing primarily to the inability of current DNA testing technology to identify all possible mutations and the difficulty involved in conveying the concept of residual risk to those patients who test negative. To address these issues, we are conducting a pilot study, as part of a consortium established by the National Center for Human Genome Research, to explore the efficacy, acceptance, and psychosocial impact of various approaches to carrier screening in an ethnically diverse Southern California population. This article reports the patient instructional and screening strategies we developed in the initial phase of the project in order to optimize our chances of answering these questions and delivering this service on a large scale.</subfield></datafield><datafield tag="533" ind1=" " ind2=" "><subfield code="f">Springer Online Journal Archives 1860-2002</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Tatsugawa, Zina H.</subfield><subfield code="4">oth</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Fox, Michelle A.</subfield><subfield code="4">oth</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Fang, Carolyn Y.</subfield><subfield code="4">oth</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Novak, Jessica M.</subfield><subfield code="4">oth</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Cantor, Rita M.</subfield><subfield code="4">oth</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Bass, Harold N.</subfield><subfield code="4">oth</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Dunkel-Schetter, Christine</subfield><subfield code="4">oth</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Crandall, Barbara F.</subfield><subfield code="4">oth</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Grody, Wayne W.</subfield><subfield code="4">oth</subfield></datafield><datafield tag="773" ind1="0" ind2="8"><subfield code="i">in</subfield><subfield code="t">Journal of genetic counseling</subfield><subfield code="d">1992</subfield><subfield code="g">3(1994) vom: Apr., Seite 279-289</subfield><subfield code="w">(DE-627)NLEJ188991565</subfield><subfield code="w">(DE-600)2016899-8</subfield><subfield code="x">1573-3599</subfield><subfield code="7">nnns</subfield></datafield><datafield tag="773" ind1="1" ind2="8"><subfield code="g">volume:3</subfield><subfield code="g">year:1994</subfield><subfield code="g">month:04</subfield><subfield code="g">pages:279-289</subfield><subfield code="g">extent:11</subfield></datafield><datafield tag="856" ind1="4" ind2="0"><subfield code="u">http://dx.doi.org/10.1007/BF01412373</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_USEFLAG_U</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">ZDB-1-SOJ</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_NL_ARTICLE</subfield></datafield><datafield tag="951" ind1=" " ind2=" "><subfield code="a">AR</subfield></datafield><datafield tag="952" ind1=" " ind2=" "><subfield code="d">3</subfield><subfield code="j">1994</subfield><subfield code="c">4</subfield><subfield code="h">279-289</subfield><subfield code="g">11</subfield></datafield></record></collection>
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