Pilot experience of multidisciplinary team discussion dedicated to inherited pulmonary fibrosis
Identifieur interne : 000536 ( Main/Curation ); précédent : 000535; suivant : 000537Pilot experience of multidisciplinary team discussion dedicated to inherited pulmonary fibrosis
Auteurs : Raphael Borie [France] ; Caroline Kannengiesser [France] ; Laurent Gouya [France] ; Clairelyne Dupin [France] ; Serge Amselem [France] ; Ibrahima Ba [France] ; Vincent Bunel [France] ; Philippe Bonniaud [France] ; Diane Bouvry [France] ; Aurélie Cazes [France] ; Annick Clement [France] ; Marie Pierre Debray [France] ; Philippe Dieude [France] ; Ralph Epaud [France] ; Pascale Fanen [France] ; Elodie Lainey [France] ; Marie Legendre [France] ; Aurélie Plessier [France] ; Flore Sicre De Fontbrune [France] ; Lidwine Wemeau-Stervinou [France] ; Vincent Cottin [France] ; Nadia Nathan [France] ; Bruno Crestani [France]Source :
- Orphanet Journal of Rare Diseases [ 1750-1172 ] ; 2019.
Abstract
Genetic testing is proposed for suspected cases of monogenic pulmonary fibrosis, but clinicians and patients need specific information and recommendation about the related diagnosis and management issues. Because multidisciplinary discussion (MDD) has been shown to improve accuracy of interstitial lung disease (ILD) diagnosis, we evaluated the feasibility of a genetic MDD (geneMDD) dedicated to the indication for and interpretation of genetic testing. The geneMDD group met monthly and included pediatric and adult lung specialists with ILD expertise, molecular and clinical geneticists, and one radiologist. Hematologists, rheumatologists, dermatologists, hepatologists, and pathologists were also invited to attend.
Since 2016, physicians from 34 different centers in 7 countries have participated in the geneMDD. The medical files of 95 patients (53 males) have been discussed. The median age of patients was 43 years [range 0–77], 10 were ≤ 15 years old, and 6 were deceased at the time of the discussion. Among 85 analyses available, the geneMDD considered the rare gene variants pathogenic for 61: 37 variants in telomere-related genes, 23 variants in surfactant-related genes and 1 variant in
Our experience shows that a dedicated geneMDD is feasible regardless of a patient’s age and provides a unique opportunity to adapt patient management and therapy in this very rare condition.
Url:
DOI: 10.1186/s13023-019-1256-5
PubMed: 31796085
PubMed Central: 6889342
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<institution>Service de Pneumologie Pediatrique,</institution>
<institution>Hôpital Trousseau, Filière RespiFil, APHP,</institution>
</institution-wrap>
Paris, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Paris</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Crestani, Bruno" sort="Crestani, Bruno" uniqKey="Crestani B" first="Bruno" last="Crestani">Bruno Crestani</name>
<affiliation><nlm:aff id="Aff1"><institution-wrap><institution-id institution-id-type="ISNI">0000 0000 8588 831X</institution-id>
<institution-id institution-id-type="GRID">grid.411119.d</institution-id>
<institution>Service de Pneumologie A, DHU FIRE, Centre de Référence (Site Constitutif) Maladies Pulmonaires Rares,</institution>
<institution>APHP, Hôpital Bichat,</institution>
</institution-wrap>
46 rue Henri Huchard, 75877 Paris, CEDEX 18 France</nlm:aff>
<wicri:noCountry code="subfield">CEDEX 18 France</wicri:noCountry>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="Aff2"><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 2217 0017</institution-id>
<institution-id institution-id-type="GRID">grid.7452.4</institution-id>
<institution>INSERM, Unité 1152,</institution>
<institution>Université Paris Diderot,</institution>
</institution-wrap>
Paris, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Paris</wicri:regionArea>
</affiliation>
</author>
</titleStmt>
<publicationStmt><idno type="wicri:source">PMC</idno>
<idno type="pmid">31796085</idno>
<idno type="pmc">6889342</idno>
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<idno type="RBID">PMC:6889342</idno>
<idno type="doi">10.1186/s13023-019-1256-5</idno>
<date when="2019">2019</date>
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<idno type="wicri:Area/Main/Merge">000536</idno>
<idno type="wicri:Area/Main/Curation">000536</idno>
</publicationStmt>
<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Pilot experience of multidisciplinary team discussion dedicated to inherited pulmonary fibrosis</title>
<author><name sortKey="Borie, Raphael" sort="Borie, Raphael" uniqKey="Borie R" first="Raphael" last="Borie">Raphael Borie</name>
<affiliation><nlm:aff id="Aff1"><institution-wrap><institution-id institution-id-type="ISNI">0000 0000 8588 831X</institution-id>
<institution-id institution-id-type="GRID">grid.411119.d</institution-id>
<institution>Service de Pneumologie A, DHU FIRE, Centre de Référence (Site Constitutif) Maladies Pulmonaires Rares,</institution>
<institution>APHP, Hôpital Bichat,</institution>
</institution-wrap>
46 rue Henri Huchard, 75877 Paris, CEDEX 18 France</nlm:aff>
<wicri:noCountry code="subfield">CEDEX 18 France</wicri:noCountry>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="Aff2"><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 2217 0017</institution-id>
<institution-id institution-id-type="GRID">grid.7452.4</institution-id>
<institution>INSERM, Unité 1152,</institution>
<institution>Université Paris Diderot,</institution>
</institution-wrap>
Paris, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Paris</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Kannengiesser, Caroline" sort="Kannengiesser, Caroline" uniqKey="Kannengiesser C" first="Caroline" last="Kannengiesser">Caroline Kannengiesser</name>
<affiliation wicri:level="1"><nlm:aff id="Aff2"><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 2217 0017</institution-id>
<institution-id institution-id-type="GRID">grid.7452.4</institution-id>
<institution>INSERM, Unité 1152,</institution>
<institution>Université Paris Diderot,</institution>
</institution-wrap>
Paris, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Paris</wicri:regionArea>
</affiliation>
<affiliation wicri:level="3"><nlm:aff id="Aff3">Laboratoire de Génétique, APHP, Hôpital Bichat, Paris, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Laboratoire de Génétique, APHP, Hôpital Bichat, Paris</wicri:regionArea>
<placeName><region type="region">Île-de-France</region>
<region type="old region">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="Aff4"><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 2217 0017</institution-id>
<institution-id institution-id-type="GRID">grid.7452.4</institution-id>
<institution>Université Paris Diderot,</institution>
</institution-wrap>
Paris, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Paris</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Gouya, Laurent" sort="Gouya, Laurent" uniqKey="Gouya L" first="Laurent" last="Gouya">Laurent Gouya</name>
<affiliation wicri:level="1"><nlm:aff id="Aff2"><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 2217 0017</institution-id>
<institution-id institution-id-type="GRID">grid.7452.4</institution-id>
<institution>INSERM, Unité 1152,</institution>
<institution>Université Paris Diderot,</institution>
</institution-wrap>
Paris, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Paris</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Dupin, Clairelyne" sort="Dupin, Clairelyne" uniqKey="Dupin C" first="Clairelyne" last="Dupin">Clairelyne Dupin</name>
<affiliation><nlm:aff id="Aff1"><institution-wrap><institution-id institution-id-type="ISNI">0000 0000 8588 831X</institution-id>
<institution-id institution-id-type="GRID">grid.411119.d</institution-id>
<institution>Service de Pneumologie A, DHU FIRE, Centre de Référence (Site Constitutif) Maladies Pulmonaires Rares,</institution>
<institution>APHP, Hôpital Bichat,</institution>
</institution-wrap>
46 rue Henri Huchard, 75877 Paris, CEDEX 18 France</nlm:aff>
<wicri:noCountry code="subfield">CEDEX 18 France</wicri:noCountry>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="Aff2"><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 2217 0017</institution-id>
<institution-id institution-id-type="GRID">grid.7452.4</institution-id>
<institution>INSERM, Unité 1152,</institution>
<institution>Université Paris Diderot,</institution>
</institution-wrap>
Paris, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Paris</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Amselem, Serge" sort="Amselem, Serge" uniqKey="Amselem S" first="Serge" last="Amselem">Serge Amselem</name>
<affiliation wicri:level="1"><nlm:aff id="Aff5"><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 2308 1657</institution-id>
<institution-id institution-id-type="GRID">grid.462844.8</institution-id>
<institution>Département de Génétique, U.F. de Génétique moléculaire,</institution>
<institution>APHP, Sorbonne Université, Inserm U933, Hôpital Trousseau,</institution>
</institution-wrap>
Paris, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Paris</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Ba, Ibrahima" sort="Ba, Ibrahima" uniqKey="Ba I" first="Ibrahima" last="Ba">Ibrahima Ba</name>
<affiliation wicri:level="1"><nlm:aff id="Aff2"><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 2217 0017</institution-id>
<institution-id institution-id-type="GRID">grid.7452.4</institution-id>
<institution>INSERM, Unité 1152,</institution>
<institution>Université Paris Diderot,</institution>
</institution-wrap>
Paris, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Paris</wicri:regionArea>
</affiliation>
<affiliation wicri:level="3"><nlm:aff id="Aff3">Laboratoire de Génétique, APHP, Hôpital Bichat, Paris, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Laboratoire de Génétique, APHP, Hôpital Bichat, Paris</wicri:regionArea>
<placeName><region type="region">Île-de-France</region>
<region type="old region">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="Aff4"><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 2217 0017</institution-id>
<institution-id institution-id-type="GRID">grid.7452.4</institution-id>
<institution>Université Paris Diderot,</institution>
</institution-wrap>
Paris, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Paris</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Bunel, Vincent" sort="Bunel, Vincent" uniqKey="Bunel V" first="Vincent" last="Bunel">Vincent Bunel</name>
<affiliation wicri:level="3"><nlm:aff id="Aff6">APHP, Hôpital Bichat, Service de Pneumologie B, DHU FIRE, Paris, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>APHP, Hôpital Bichat, Service de Pneumologie B, DHU FIRE, Paris</wicri:regionArea>
<placeName><region type="region">Île-de-France</region>
<region type="old region">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Bonniaud, Philippe" sort="Bonniaud, Philippe" uniqKey="Bonniaud P" first="Philippe" last="Bonniaud">Philippe Bonniaud</name>
<affiliation wicri:level="1"><nlm:aff id="Aff7"><institution-wrap><institution-id institution-id-type="GRID">grid.31151.37</institution-id>
<institution>Service de Pneumologie et Soins Intensifs Respiratoires, Centre de Référence (Site Constitutif) Maladies Pulmonaires Rares,</institution>
<institution>CHU Dijon-Bourgogne,</institution>
</institution-wrap>
Dijon, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Dijon</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Bouvry, Diane" sort="Bouvry, Diane" uniqKey="Bouvry D" first="Diane" last="Bouvry">Diane Bouvry</name>
<affiliation wicri:level="1"><nlm:aff id="Aff8"><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 2175 4109</institution-id>
<institution-id institution-id-type="GRID">grid.50550.35</institution-id>
<institution>Service de Pneumologie, Hôpital Avicenne, Centre de Référence (Site Constitutif) Maladies Pulmonaires Rares,</institution>
<institution>APHP,</institution>
</institution-wrap>
Bobigny, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Bobigny</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Cazes, Aurelie" sort="Cazes, Aurelie" uniqKey="Cazes A" first="Aurélie" last="Cazes">Aurélie Cazes</name>
<affiliation wicri:level="3"><nlm:aff id="Aff9">APHP, Hôpital Bichat, Service d’Anatomopathologie, Paris, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>APHP, Hôpital Bichat, Service d’Anatomopathologie, Paris</wicri:regionArea>
<placeName><region type="region">Île-de-France</region>
<region type="old region">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Clement, Annick" sort="Clement, Annick" uniqKey="Clement A" first="Annick" last="Clement">Annick Clement</name>
<affiliation wicri:level="1"><nlm:aff id="Aff10"><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 1937 1098</institution-id>
<institution-id institution-id-type="GRID">grid.413776.0</institution-id>
<institution>Service de Pneumologie Pediatrique,</institution>
<institution>Hôpital Trousseau, Filière RespiFil, APHP,</institution>
</institution-wrap>
Paris, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Paris</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Debray, Marie Pierre" sort="Debray, Marie Pierre" uniqKey="Debray M" first="Marie Pierre" last="Debray">Marie Pierre Debray</name>
<affiliation wicri:level="3"><nlm:aff id="Aff11">APHP, Hôpital Bichat, Service de Radiologie Paris, Paris, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>APHP, Hôpital Bichat, Service de Radiologie Paris, Paris</wicri:regionArea>
<placeName><region type="region">Île-de-France</region>
<region type="old region">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Dieude, Philippe" sort="Dieude, Philippe" uniqKey="Dieude P" first="Philippe" last="Dieude">Philippe Dieude</name>
<affiliation wicri:level="3"><nlm:aff id="Aff12">APHP, Hôpital Bichat, Service de Rhumatologie, Paris, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>APHP, Hôpital Bichat, Service de Rhumatologie, Paris</wicri:regionArea>
<placeName><region type="region">Île-de-France</region>
<region type="old region">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Epaud, Ralph" sort="Epaud, Ralph" uniqKey="Epaud R" first="Ralph" last="Epaud">Ralph Epaud</name>
<affiliation wicri:level="3"><nlm:aff id="Aff13">Centre des Maladies Respiratoires Rare, Respirare® Centre Hospitalier Intercommunal de Créteil, Inserm, Unité 955, Equipe 5, Université Paris-Est, Faculté de Médecine, Creteil, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Centre des Maladies Respiratoires Rare, Respirare® Centre Hospitalier Intercommunal de Créteil, Inserm, Unité 955, Equipe 5, Université Paris-Est, Faculté de Médecine, Creteil</wicri:regionArea>
<placeName><region type="region">Île-de-France</region>
<region type="old region">Île-de-France</region>
<settlement type="city">Créteil</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Fanen, Pascale" sort="Fanen, Pascale" uniqKey="Fanen P" first="Pascale" last="Fanen">Pascale Fanen</name>
<affiliation wicri:level="1"><nlm:aff id="Aff14"><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 2175 4109</institution-id>
<institution-id institution-id-type="GRID">grid.50550.35</institution-id>
<institution>Laboratoire de Génétique, APHP, Hôpital Henri Mondor,</institution>
</institution-wrap>
Paris, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Paris</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Lainey, Elodie" sort="Lainey, Elodie" uniqKey="Lainey E" first="Elodie" last="Lainey">Elodie Lainey</name>
<affiliation wicri:level="1"><nlm:aff id="Aff15"><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 1937 0589</institution-id>
<institution-id institution-id-type="GRID">grid.413235.2</institution-id>
<institution>Laboratoire d’hématologie, APHP, Hôpital Robert Debré,</institution>
</institution-wrap>
Paris, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Paris</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Legendre, Marie" sort="Legendre, Marie" uniqKey="Legendre M" first="Marie" last="Legendre">Marie Legendre</name>
<affiliation wicri:level="1"><nlm:aff id="Aff5"><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 2308 1657</institution-id>
<institution-id institution-id-type="GRID">grid.462844.8</institution-id>
<institution>Département de Génétique, U.F. de Génétique moléculaire,</institution>
<institution>APHP, Sorbonne Université, Inserm U933, Hôpital Trousseau,</institution>
</institution-wrap>
Paris, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Paris</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Plessier, Aurelie" sort="Plessier, Aurelie" uniqKey="Plessier A" first="Aurélie" last="Plessier">Aurélie Plessier</name>
<affiliation wicri:level="1"><nlm:aff id="Aff16"><institution-wrap><institution-id institution-id-type="ISNI">0000 0000 8595 4540</institution-id>
<institution-id institution-id-type="GRID">grid.411599.1</institution-id>
<institution>APHP, Service d’hépatologie, Hôpital Beaujon,</institution>
</institution-wrap>
Clichy, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Clichy</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Sicre De Fontbrune, Flore" sort="Sicre De Fontbrune, Flore" uniqKey="Sicre De Fontbrune F" first="Flore" last="Sicre De Fontbrune">Flore Sicre De Fontbrune</name>
<affiliation wicri:level="1"><nlm:aff id="Aff17"><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 2300 6614</institution-id>
<institution-id institution-id-type="GRID">grid.413328.f</institution-id>
<institution>APHP, Service d’hématologie, Hôpital St Louis,</institution>
</institution-wrap>
Paris, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Paris</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Wemeau Stervinou, Lidwine" sort="Wemeau Stervinou, Lidwine" uniqKey="Wemeau Stervinou L" first="Lidwine" last="Wemeau-Stervinou">Lidwine Wemeau-Stervinou</name>
<affiliation wicri:level="1"><nlm:aff id="Aff18"><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 0471 8845</institution-id>
<institution-id institution-id-type="GRID">grid.410463.4</institution-id>
<institution>Service de Pneumologie, Centre de Référence (Site Constitutif) Maladies Pulmonaires Rares,</institution>
<institution>CHU de Lille,</institution>
</institution-wrap>
Lille, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Lille</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Cottin, Vincent" sort="Cottin, Vincent" uniqKey="Cottin V" first="Vincent" last="Cottin">Vincent Cottin</name>
<affiliation wicri:level="1"><nlm:aff id="Aff19"><institution-wrap><institution-id institution-id-type="GRID">grid.413858.3</institution-id>
<institution>Coordonnateur, OrphaLung, Centre national de référence des maladies pulmonaires rares, Service de Pneumologie,</institution>
<institution>Hôpital Louis Pradel, UMR754, Université Claude Bernard Lyon 1,</institution>
</institution-wrap>
Lyon, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Lyon</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Nathan, Nadia" sort="Nathan, Nadia" uniqKey="Nathan N" first="Nadia" last="Nathan">Nadia Nathan</name>
<affiliation wicri:level="1"><nlm:aff id="Aff10"><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 1937 1098</institution-id>
<institution-id institution-id-type="GRID">grid.413776.0</institution-id>
<institution>Service de Pneumologie Pediatrique,</institution>
<institution>Hôpital Trousseau, Filière RespiFil, APHP,</institution>
</institution-wrap>
Paris, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Paris</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Crestani, Bruno" sort="Crestani, Bruno" uniqKey="Crestani B" first="Bruno" last="Crestani">Bruno Crestani</name>
<affiliation><nlm:aff id="Aff1"><institution-wrap><institution-id institution-id-type="ISNI">0000 0000 8588 831X</institution-id>
<institution-id institution-id-type="GRID">grid.411119.d</institution-id>
<institution>Service de Pneumologie A, DHU FIRE, Centre de Référence (Site Constitutif) Maladies Pulmonaires Rares,</institution>
<institution>APHP, Hôpital Bichat,</institution>
</institution-wrap>
46 rue Henri Huchard, 75877 Paris, CEDEX 18 France</nlm:aff>
<wicri:noCountry code="subfield">CEDEX 18 France</wicri:noCountry>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="Aff2"><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 2217 0017</institution-id>
<institution-id institution-id-type="GRID">grid.7452.4</institution-id>
<institution>INSERM, Unité 1152,</institution>
<institution>Université Paris Diderot,</institution>
</institution-wrap>
Paris, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Paris</wicri:regionArea>
</affiliation>
</author>
</analytic>
<series><title level="j">Orphanet Journal of Rare Diseases</title>
<idno type="eISSN">1750-1172</idno>
<imprint><date when="2019">2019</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
</fileDesc>
<profileDesc><textClass></textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en"><sec><title>Background</title>
<p id="Par1">Genetic testing is proposed for suspected cases of monogenic pulmonary fibrosis, but clinicians and patients need specific information and recommendation about the related diagnosis and management issues. Because multidisciplinary discussion (MDD) has been shown to improve accuracy of interstitial lung disease (ILD) diagnosis, we evaluated the feasibility of a genetic MDD (geneMDD) dedicated to the indication for and interpretation of genetic testing. The geneMDD group met monthly and included pediatric and adult lung specialists with ILD expertise, molecular and clinical geneticists, and one radiologist. Hematologists, rheumatologists, dermatologists, hepatologists, and pathologists were also invited to attend.</p>
</sec>
<sec><title>Results</title>
<p id="Par2">Since 2016, physicians from 34 different centers in 7 countries have participated in the geneMDD. The medical files of 95 patients (53 males) have been discussed. The median age of patients was 43 years [range 0–77], 10 were ≤ 15 years old, and 6 were deceased at the time of the discussion. Among 85 analyses available, the geneMDD considered the rare gene variants pathogenic for 61: 37 variants in telomere-related genes, 23 variants in surfactant-related genes and 1 variant in <italic>MARS</italic>
. Genetic counseling was offered for relatives of these patients. The geneMDD therapeutic proposals were as follows: antifibrotic drugs (<italic>n</italic>
= 25), steroids or immunomodulatory therapy (<italic>n</italic>
= 18), organ transplantation (<italic>n</italic>
= 21), watch and wait (<italic>n</italic>
= 21), or best supportive care (<italic>n</italic>
= 4).</p>
</sec>
<sec><title>Conclusion</title>
<p id="Par3">Our experience shows that a dedicated geneMDD is feasible regardless of a patient’s age and provides a unique opportunity to adapt patient management and therapy in this very rare condition.</p>
</sec>
</div>
</front>
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</back>
</TEI>
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