Riba:
- Ƙarfin fahimtar tsarin rahoton kwayoyin halitta na asibiti da iyakacin rawar da basirar wucin gadi a cikin daftarin aiki / samarwa.
- Ability to link each clinical claim to evidence and primary source and enforce that the final report must be approved by the qualified specialist
- Ikon ɗaukar horo na ba kai tsaye jujjuya fitowar bayanan sirri na wucin gadi zuwa yanke shawara na haƙuri da rubuta sarkar tabbatarwa
Canja wurin binciken kwayoyin halitta daga dakin gwaje-gwaje zuwa majiyyaci shine matakin da ya fi daukar nauyin ilimin kwayoyin halitta. Rarraba wani bambance-bambance ko kuskuren rahoto; Yana iya haifar da tiyata ba dole ba, zaɓin magani ba daidai ba, ko bayanin haɗari mara daidai ga dangi. A cikin wannan rukunin, za ku koyi yadda ake amfani da hankali na wucin gadi (AI) azaman tsarawa, sauƙaƙe harshe, da mataimaki na samar da jerin abubuwan bincike a cikin fassarar kwayoyin halitta da bayar da rahoto; amma za ku koyi dalilin da yasa ya kamata shawarar asibiti koyaushe ta kasance tare da ƙwararren ƙwararren.
Ka'ida mai mahimmanci: AI baya yin bincike, baya yanke shawara na asibiti, baya sanar da mai haƙuri. AI; Kayan aiki ne na zayyanawa da dubawa wanda ke hanzarta aikin gwani. Fassara ta ƙarshe, amincewa da rahoton da kuma saƙon da aka isar wa mara lafiya shine alhakin da aka ba da izini ga likitan kwayoyin halitta, likitan kwayoyin halitta da kuma mai ba da shawara ga kwayoyin halitta. Wannan duka iyakar ɗa'a ce da ta shari'a.
Yadudduka na fassarar asibiti
Mahimmancin asibiti na sakamakon kwayoyin halitta ba ya samuwa daga bambance-bambancen kadai; An kimanta shi tare da phenotype (bincike da aka lura da alamun mara lafiya), tarihin iyali, yanayin gado da mahallin asibiti. Bambancin iri ɗaya na iya samun ma'anoni daban-daban a cikin gabatarwar asibiti daban-daban. AI yana taimakawa tunawa da tsara waɗannan matakan, amma mutum ne wanda ya haɗu da yadudduka kuma ya yanke shawara.
Layer
Abun ciki
Matsayin AI
mai yanke shawara
Bambance-bambancen aji
ACMG kimanta
daftarin shaida
gwani
Phenotype matching
Nemo-bambance-bambancen zoba
jerin abubuwan dubawa
gwani
gado
Tarihin iyali, rabuwa
abin tunawa
gwani
aikin asibiti
Shawarar magani/bayyani
Takaitaccen bayani
likita
Tuntuɓar
Bayani ga majiyyaci
Daftarin sauƙaƙe harshe
mai ba da shawara
Mataki zuwa mataki: AI-taimakon fassarar asibiti
1. Haɗa binciken tare da mahallin asibiti. Yi la'akari da bambance-bambancen aji tare da nau'in phenotype, tarihin iyali, da yanayin gado; Tambayi AI don jerin abubuwan bincike na waɗannan yadudduka.
2. Tambaya phenotype-genotype dacewa. Shin bambance-bambancen yayi daidai da ainihin binciken majiyyaci? Idan bai dace ba, yi sharhi a hankali. Albarkatu kamar HPO (kamus na sharuɗɗan phenotype na ɗan adam) suna da taimako.
3. Bayar da rashin tabbas gaskiya. Idan VUS ne (bambancin mahimmancin da ba a tantance ba), kar a fassara wannan zuwa aikin asibiti; Bayyana shi a fili a cikin rahoton.
4. Zana rahoton cikin yare bayyananne kuma daidai. AI na iya sauƙaƙe rubutun fasaha don haƙuri da likita; Amma kowane jumla kwararre ne ya amince da shi.
5. Iyakoki na jihohi da shawarwari. Rubuta abin da gwajin bai ƙunshi ba, a cikin waɗanne lokuta ana buƙatar sake kimantawa, da shawarwarin shawarwarin kwayoyin halitta.
Tukwici: Koyaushe kula da ka'idar "wannan sakamakon ya kamata a fassara shi tare da mahallin asibiti da kuma hukunci na ƙwararru" a cikin rahoton asibiti. Sakamakon kwayoyin halitta ba ganewar asali ba ne a cikin kansa, amma gudunmawa ga ganewar asali. Idan daftarin AI ya share wannan manufar, ƙara shi baya.
uku mini lokuta
Case 1 - Rashin daidaituwa na Phenotype. Wani kwararre ya nemi AI don tsara rahoto game da bambance-bambancen "yiwuwar cuta". AI ta rubuta bambance-bambancen azaman dalilin kai tsaye na rashin lafiyar mai haƙuri. Duk da haka, phenotype na majiyyaci bai yi daidai da cutar da ke da alaƙa da wannan kwayar halitta ba. Masanin ya hana da'awar karya ta dalilin da ya kara da cewa "dangantakar wannan bambance-bambancen da hoton asibiti ba ta da tabbas."
Case 2-Tuyar VUS zuwa aikin asibiti. Mataimakin likita ya tambayi AI "menene ya kamata mara lafiya ya yi?" don VUS. sai ya tambaya; Ya jera gwajin AI da shawarwarin taka tsantsan. Ganin cewa VUS ba ta ɗaukar isasshiyar shaida don aikin asibiti. Babban masanin ya lura da wannan kuma ya cire shawarwarin; shiga tsakani bisa wani bambance-bambancen da ba a tantance ba zai iya haifar da lahani.
Case 3 - Tabbatar da samu. Wani mashawarcin kwayoyin halitta ya sa AI ta sauƙaƙe rubutun bayanin da za a isar da shi ga majiyyaci. AI ya sa rubutun ya zama mai fahimta amma ya kara da magana kamar "tabbas za ku yi rashin lafiya" wanda ke juya yuwuwar zuwa tabbas. Mai ba da shawara ya gyara hakan da cewa " haɗarin ku ya ƙaru, amma wannan ba lallai ba ne yana nufin cuta." An sauƙaƙa harshen amma daidaito da sautin an kiyaye su da ƙwarewa.
Samfura huɗu masu kwafi
1) Lissafin bincike na asibiti:
Matsayinku: Mataimakin fassarar kwayoyin halitta na asibiti. Don binciken mai zuwa, jera matakan da nake buƙatar dubawa kafin ci gaba zuwa fassarar asibiti: [bambance-bambancen aji, phenotype, tarihin iyali, gado]. Ga kowane Layer, "wace tambaya zan amsa?" rubuta a cikin tsari . Ba ku yanke shawarar asibiti ba.
2) Daftarin rahoto (kwararre ya amince):
Maida binciken mai zuwa zuwa sakin layi mai sauƙi amma fasaha don likita: [bambance-bambancen, aji, shaida, bayanin kula na phenotype]. Kada ku wuce gona da iri; Idan akwai rashin tabbas, rubuta shi a fili. Kula da ka'idar cewa "dole ne a fassara shi tare da mahallin asibiti da kuma hukunci na ƙwararru." Ina da amincewa ta ƙarshe.
3) Sauƙaƙe bayani ga majiyyaci:
Bayyana sakamakon fasaha mai zuwa a cikin harshe mai tausayi wanda mara lafiya ba tare da horon likita ba zai iya fahimta: [sakamako]. Mayar da yuwuwar zuwa tabbas (KADA KA CE "tabbas zai yi rashin lafiya"). Koma zuwa shawarwarin kwayoyin halitta. Zan sake dubawa kuma in amince da rubutun.
4) Iyakance da sashin shawarwari:
Zana sashin "iyakoki da shawarwari" don rahoton gwajin kwayoyin halitta mai zuwa:[nau'in gwaji]. Haɗa abin da gwajin bai ƙunshi ba, a cikin abin da ake buƙatar sake kimantawa, da shawarar shawarwarin kwayoyin halitta.
Rauni mai ƙarfi / Ƙarfi mai ƙarfi
Rauni: "Mene ne majinyacin wannan majiyyaci dangane da sakamakon halittarsa kuma menene ya kamata yayi?"
Matsala: Neman AI don ganewar asali da yanke shawara na asibiti; Wannan baya kan iyakokin AI na iko da aminci.
Güçlü: "Yi jerin nau'ikan yadudduka (phenotype concordance, gado, rashin tabbas) da nake buƙatar bincika kafin in ci gaba da fassarar asibiti don wannan binciken; sannan rubuta sakin layi na rahoto ga likitan da ba ya wuce gona da iri. Zan yi bincike da yanke shawara."
Me ya sa yake da iko: AI ba ya yanke shawara, yana shimfidawa da zane; Shawarar da yarda sun kasance tare da gwani.
Kuskuren gama gari
- Bari AI ta yanke shawarar bincike/na asibiti. Ketare iyakokin hukuma da alhakin.
- Fassara VUS zuwa aikin asibiti. Shiga tare da shaida mara tabbas yana haifar da lahani.
- Ketare phenotype matching. Bambance-bambancen aji kadai baya bayar da mahimmancin asibiti.
- Juya yuwuwar zuwa tabbas. "Hadarin ya karu" kuma "tabbas zai yi rashin lafiya" sun bambanta sosai.
- Ba rubuta iyakoki ba. Tabbacin arya zai taso idan ba a fayyace yanayin da gwajin ba ya kunsa.
Tsanaki: Bayanin kwayoyin halitta ya shafi ba kawai majiyyaci ba har ma da 'yan uwa (hadarin gado). Ya kamata a yi la'akari da wannan girman tare da keɓancewa da ƙa'idodin yarda a cikin rahoto da sadarwa. Za mu tattauna wannan dalla-dalla a cikin raka'a 10.
Zurfin: shiga, bayyanawa da binciken sakandare
Hanyoyi guda uku da aka yi watsi da su akai-akai na fassarar asibiti gaba ɗaya suna canza sautin rahoto gaba ɗaya. Na farko shi ne shiga ciki: nawa kashi na mutanen da ke ɗauke da bambance-bambancen ƙwayoyin cuta za su yi rashin lafiya. Yawancin bambance-bambancen ba su da cikakkiyar shigar ciki - alal misali, 60% shigar ciki yana nufin cewa kashi 40% na masu ɗaukar kaya ba za su taɓa yin rashin lafiya ba. Lokacin da AI ya rubuta cewa bambance-bambancen "yana haifar da cuta," idan bai ƙayyade shiga ciki ba, rahoton ya ba da tabbaci ga mai haƙuri. Na biyu shine bayyanawa: bambance-bambancen iri ɗaya na iya haifar da alamun tsanani daban-daban a cikin mutane daban-daban; Saboda haka, maimakon a ce "wannan bambance-bambancen ya samar da wannan hoton", ya fi dacewa a ce "yana da alaƙa da binciken mai tsanani".
Na uku, binciken na biyu/na faruwa: lokacin da ake gwada majiyyaci ga kwayar halitta, za a iya samun bambance-bambancen da ba shi da alaƙa amma mahimmancin likitanci (misali, kwayar cutar kansar). Ko an bayyana su ga majiyyaci ko a'a ya dogara da izinin kafin majiyyaci da jagororin ƙwararru (misali jerin ACMG na ƙwayoyin da aka ba da shawarar don bayar da rahoto); Ba a ba da izini ba don basirar wucin gadi don faɗin kai tsaye "ba da rahoton wannan kuma".
Shari'ar Kankare: ƙungiyar ta karɓi tsari daga AI don bambance-bambancen zuciya tare da shigar da ba ta cika ba; "Majinyacin zai ci gaba da wannan cuta," in ji daftarin. Masanin ya gyara bayanin don "ɗaukar haɗarin haɗari na rayuwa, amma yawancin masu ɗaukar kaya ba su da tasiri," ya kara da cewa shiga ciki shine ~ 50% a cikin wallafe-wallafe. Wannan gyara ya hana dangi asymptomatic a cikin iyali fuskantar damuwa mara amfani da tsangwama mara amfani.
ra'ayi
Ma'ana
Tasiri kan rahoton
shiga ciki
Yawan masu cutar da cutar
"kara haɗari" maimakon "tabbas"
Bayyanawa
Canjin tsananin alamun
Maganar "tashin hankali"
binciken na biyu
Bambance-bambancen da ba shi da alaƙa amma mahimmanci
Yana buƙatar izini + jagora
A takaice
- Fassarar kwayoyin halitta na asibiti; Hukuncin ƙwararru ne wanda ya haɗa nau'in bambance-bambancen tare da nau'in halitta, tarihin iyali, da gado.
- AI; Mataimaki ne wanda ke tunatar da ku matakai, tsara rahotanni, da sauƙaƙe harshe — baya tantancewa, ba ya yanke shawara.
- Ya kamata a ba da rahoton rashin tabbas (VUS) da gaskiya, ba a fassara shi zuwa aikin asibiti ba.
- Kowane jumlar rahoto da saƙon da aka isar wa majiyyaci an yarda da su ta ƙwararren ƙwararren da aka ba da izini.
Aikin aikace-aikace
Shirya bambance-bambancen gano misali da taƙaitaccen bayanin phenotype. 1. sami lissafin fassarar fassarar asibiti daga AI tare da samfuri; Ga kowane Layer, kimanta daidaituwar bambance-bambancen tare da phenotype da kanku. Sannan rubuta sakin layi na rahoto tare da samfuri 2 kuma bitar kowace hujja/tabbatacciyar sanarwa a ciki kuma a sassauta shi idan ya cancanta. Kula da gyaran da kuka yi.
jerin abubuwan dubawa
- [ ] Na kimanta binciken tare da phenotype, tarihin iyali, da gado.
- [ ] Na yi tambaya game da dacewar phenotype-genotype.
- [ ] Na bayar da rahoton rashin tabbas (VUS) gaskiya, amma ban mayar da shi aiki ba.
- [ ] Na bincika dalilin da ya sa / tabbatacciyar ƙari a cikin harshen rahoto.
- [ ] Na kara da shawarar don iyakoki da shawarwarin kwayoyin halitta.
- [ ] Na ba da sharhi na ƙarshe da amincewa a matsayin gwani.