SFMG årsmöte 26/1

Samtliga medlemmar i SFMG kallas till föreningens årsmöte som avhålls i anslutning till Genetikdagarna. Årsmötet sker klockan 10.15 torsdagen den 26 januari 2017, Hotell Elite Ideon, Lund. För kallelse samt verksamhetsberättelse, se nedanstående pdf-filer:

Kallelse SFMG årsmöte 2017
Kallelse SFMG årsmöte 2017
Kallelse-SFMG-arsmote-2017.pdf
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Verksamhetsberättelse SFMG 2016
Verksamhetsberättelse SFMG 2016
Verksamhetsberattelse-SFMG-2016.pdf
110.5 KiB
277 Downloads
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Schema Genetikdagarna

Schema för utbildningsdagen 25/1 och Genetikdagarna (“Stallet”) 26-27/1 finns nu tillgängligt, se nedanstående pdf-filer:

Schema Stallet 20170126-20170127
Schema Stallet 20170126-20170127
Schema-Stallet-20170126-20170127.pdf
63.6 KiB
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Förvärvad Genetik 20170125 SFMG
Förvärvad Genetik 20170125 SFMG
Forvarvad-genetik-20170125-SFMG.pdf
265.2 KiB
283 Downloads
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Riktlinjer NGS rapportering

SFMG:s arbetsgrupp för NGS-baserad diagnostik vid ärftliga tillstånd har upprättat riktlinjer för rapportering av fynd vid analys med den nya generationens sekvenseringsteknologi (NGS).

NGS - SFMG Riktlinjer rapportering
NGS - SFMG Riktlinjer rapportering
SFMG-riktlinjer-NGS-besvarning-31-okt-2016.pdf
Version: 2016-10-31
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Nya kvalitetsdokument WGS WES

SFMG:s arbetsgrupp för NGS-baserad diagnostik vid ärftliga tillstånd har upprättat två kvalitetsdokument relaterade till genomvida analyser, helgenomsekvensering (WGS) och helexomsekvensering (WES). Det rör sig dels om riktlinjer för hantering av s.k. “oväntade” genetiska fynd, och dels om en mall för hur patientinformation bör utformas vid dessa analyser. Bägge dokumenten finns tillgängliga som pdf-filer på SFMGs hemsida:

NGS - SFMG Hantering av oväntade genetiska fynd
NGS - SFMG Hantering av oväntade genetiska fynd
SFMG-hantering-av-ovantade-genetiska-fynd_22-juni-2016.pdf
Version: 1.0
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NGS - SFMG Mall patientinformation WGS WES
NGS - SFMG Mall patientinformation WGS WES
SFMG-Patientinformation_WGS_WES_22-juni-2016.pdf
Version: 1.0
13.0 KiB
1374 Downloads
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SFMG verksamhetsberättelse 2014 och årsmötesprotokoll 2015

SFMG har publicerat föreningens Verksamhetsberättelse för år 2014 och Årsmötesprotokoll 2015.

Verksamhetsberättelse SFMG 2014
Verksamhetsberättelse SFMG 2014
Verksamhetsberättelse SFMG 2014.pdf
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Årsmötesprotokoll SFMG 2015
Årsmötesprotokoll SFMG 2015
Årsmötesprotokoll SFMG 2015.pdf
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SFMG-certifiering av kurser

Styrelsen för Svensk Förening för Medicinsk Genetik har publicerat information till kursgivare som önskar få SFMG-certifiering av sina kurser. För ytterligare information, se denna pdf-fil:

SFMG-certifiering av kurser
SFMG-certifiering av kurser
SFMG certifiering av kurser.pdf
Version: 1
81.4 KiB
521 Downloads
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Rekommendationer ST-utbildning

SFMGs särskilda rekommendationer avseende ST-utbildning i klinisk genetik har nu publicerats på hemsidan.

Sektionens Svensk Förening för Medicinsk Genetik (SFMG) särskilda rekommendationer är framtagna av de lokala ST-studierektorerna med syftet att klargöra och komplettera de medicinska delmålen (delmål 1 till 12) i Socialstyrelsens målbeskrivning för specialiseringstjänstgöring i klinisk genetik. Föreningen avser att successivt uppdatera dessa rekommendationer i takt med utvecklingen inom ämnesområdet. Rekommendationerna kan användas för att tidigt identifiera områden där ST-läkaren kan behöva extern auskultation för att uppnå specialistkompetens.

SFMGs särskilda rekommendationer avseende ST-utbildning i klinisk genetik
SFMGs särskilda rekommendationer avseende ST-utbildning i klinisk genetik
SFMG_Klinisk-genetik_sarskilda-rekommendationer.pdf
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Genetikdagarna 29-30/1

“Second announcement”!

Klinisk genetik i Umeå inbjuder till Genetikdagarna 2015 (”Stallet”) som kommer att avhållas på Arlanda, Radisson Blue Hotell Arlandia, 29-30 januari 2015. Sista anmälningsdag 16 december. Andra utannonseringen i denna pdf-fil:

Genetikdagarna 2015 Second Announcement
Genetikdagarna 2015 Second Announcement
Genetikdagarna 2015_second announcement.pdf
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HVP country node

Efter konsultation med samtliga verksamhetschefer vid de kliniskt genetiska enheterna i Sverige och vissa andra intressenter så har SFMG:s styrelse beslutat nominera SciLifeLabs Clinical Genomics Facility i Uppsala att bli en s.k. country node för Sverige inom Human Variome Project (HVP, se nedan och bifogad artikel) för att koordinera insamlandet av variantdata på nationell nivå. Dessa country nodes är tänkta att arbeta parallellt med gen- och sjukdomsspecifika databaser inom HVP. Richard Rosenquist Brandell och Johan Rung har skickat in en formell ansökan med stödjebrev från SFMG, och HVP har nu godkänt sekvensfaciliteten i Uppsala som “interim HVP country node”.

The Human Variome Project

The Human Variome Project exists to facilitate and support the collection, curation, interpretation and sharing of information on variation in the human genome in a responsible, free and open manner so that this information can be effectively integrated into routine clinical practice and research. The Human Variome Project is a network of professional people, institutes, and data sharing infrastructure, linked through a series of formal governance structures that each participate in some way to the collection, curation, interpretation and sharing of this information for improving health outcomes around the world.

Recognising that data collection and sharing is almost always subject to laws, regulations and best practice guidelines operating at national and subnational levels, the Human Variome Project Global Collection Architecture proposes that much of the routine data collection will be done through HVP Country Nodes. Country Nodes are a vital component for achieving improved health outcomes for people both within the country and around the world.

An HVP Country Node is defined as having three components:

1. A repository, or linked network of databases, that collect and store information on variation in the humangenome that has been generated within each country and that enables the sharing of that information bothnationally and internationally;

2. A governance structure that ensures that the work of the Node is both sustainable in the long term and isconsistent with all relevant national and international ethical, legal and social requirements; and

3. A set of policies and procedures that ensures that the repository is operated and maintained in a responsibleand accountable manner that is consistent with both national and HVP standards.

The three components above enable HVP Country Nodes to carry out specific roles both within their country and internationally:

1. Taking an active role in ensuring that data on variation is easily shared among research institutes, projects,diagnostic laboratories and clinics;

2. Contributing to building the capacity for storing and sharing data responsibly within the field of medicalgenetics and genomics;

3. Monitoring and reporting on activities that will contribute to better targeting of healthcare planning and policy development; and

4. Sharing data between other HVP Country Nodes and international Gene/Disease Specific Databases in the Human Variome Project Consortium.

Exactly how each HVP Country Node fulfils these roles is determined by each country and will be based on their unique mix of needs and capabilities. All HVP Country Nodes should progressively increase their activities by seeking to expand and improve the quality of their data collection activities within the country and their networks with other researchers, clinicians, diagnosticians, counsellors, patient groups, and relevant government officials both at the national level and in other countries. Ultimately, the data that is collected, stored and shared should be of a quality appropriate for use in clinical settings.

Because HVP Country Node repositories contain information on patients and subjects, every care must be taken to ensure that the data is collected and stored in a responsible manner. Countries vary in their cultural, religious and ethnic backgrounds; they also have different legislative and regulatory environments. HVP Country Nodes must conduct all their activities openly and transparently, and within all the relevant national requirements.

HVP Country Nodes must have an appropriate form of governance and decision making capacity to develop the policies and procedures for sustainable activities. Policies determining how data is collected, stored and shared must be developed and implemented. These practices should be reviewed and updated on a regular basis. The quality of the data that is collected, stored and shared must be transparently assessed and reported.

HVP Country Nodes do not operate in isolation. As part of an international consortium, they are active in Human Variome Project activities, participating in the development of HVP Standards and Guidelines and sharing their knowledge and experience with other HVP Country Nodes. Continuing membership of the Human Variome Project Consortium and recognition as an HVP Country Node is at all times subject to the Human Variome Project Code of Conduct.

TYPES OF HVP COUNTRY NODES

Interim status is offered to those who are able to meet two requirements –

1. agree to work towards meeting the requirements of the core definition above in sections 2 and 3 by signing a letter to that effect and

2. are able to provide satisfactory evidence that they in fact represent their country. In most cases this evidence would be a letter with appropriate letterhead addressed either to the individual or group making the application or to the Scientific Director of the Human Variome Project indicating the level of recognition/endorsement from one or more of the following: the national Human Genetics society; an officer of the national Ministry of Health, or Science and Technology or similar; the national college of pathologists or similar professional society.

Interim status is only available for one organisation in each country.

Interim members can progress to full status after undergoing an accreditation process that assesses the level of compliance of the interim Node with published HVP Standards and Guidelines and in accordance with their agreement to move towards meeting the full status requirements defined above in sections 2 and 3.

Both interim and full HVP Country Nodes are entitled to appoint a representative to the International Confederation of Countries Advisory Council (ICCAC). These representatives are also the formal point of contact between the Human Variome Project ICO and the HVP Country Node. Individuals and organizations with Observer Status may participate in the ICACC, but may not vote on matters raised in ICACC meetings.

As a formal representative body of the Human Variome Project Consortium, the ICCAC plays an important role in the operation of the Project. Specifically, the role of the ICCAC is to:  

1. Promote and develop the work of HVP Country Nodes – both their own and others within the network – through active participation in meetings and relevant official working groups; by representing HVP at various national and international fora

2. Contribute to the development of HVP official documentation including Activity Proposals, Standards Development Human Variome Project Solution Blueprint and HVP Roadmap;

3. Provide information on their Node’s activities for HVP reports and publications;

4. Take an active role in the expansion of the network of HVP Country Nodes around the world by providing guidance for other Consortium Members in initiating, developing, financing and operating their Nodes and by contributing to creating regional networks and developing/developed country partnerships for knowledge sharing and capacity building;

5. Provide guidance and advice to the International Scientific Advisory Committee and Human Variome Project Board on matters concerning national and regional collection and sharing of genetic variation information.

Initiating A Human Variome Project Country Node Hum Mutat 2011
Initiating A Human Variome Project Country Node Hum Mutat 2011
Initiating a Human Variome Project Country Node_Hum Mutat_2011.pdf
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