Nakaiy

Clingen, Kira Bre

doi:10.5749/j.ctvthhdbm.23

Cited by 2 publications

(2 citation statements)

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“…All laboratories that perform genetic testing are expected to report variants identified within their testing cohort using specific submission guidelines to ensure consistency. ClinGen 30,31 hosts a gene-level database (https:// www.clinicalgenome.org) that displays results from its gene curation expert panels which score the association of a gene with a condition or phenotype. One of seven classes are used to describe this association: no evidence reported, refuted, disputed, limited, moderate, strong, definitive.…”

mentioning

confidence: 99%

Screening for autosomal recessive and X-linked conditions during pregnancy and preconception: a practice resource of the American College of Medical Genetics and Genomics (ACMG)

Gregg

Aarabi

Klugman

et al. 2021

Genetics in Medicine

200

333

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Disclaimer: This practice resource is designed primarily as an educational resource for medical geneticists and other clinicians to help them provide quality medical services. Adherence to this practice resource is completely voluntary and does not necessarily assure a successful medical outcome. This practice resource should not be considered inclusive of all proper procedures and tests or exclusive of other procedures and tests that are reasonably directed to obtaining the same results. In determining the propriety of any specific procedure or test, the clinician should apply his or her own professional judgment to the specific clinical circumstances presented by the individual patient or specimen. Clinicians are encouraged to document the reasons for the use of a particular procedure or test, whether or not it is in conformance with this practice resource. Clinicians also are advised to take notice of the date this practice resource was adopted, and to consider other medical and scientific information that becomes available after that date. It also would be prudent to consider whether intellectual property interests may restrict the performance of certain tests and other procedures.Carrier screening began 50 years ago with screening for conditions that have a high prevalence in defined racial/ethnic groups (e.g., Tay-Sachs disease in the Ashkenazi Jewish population; sickle cell disease in Black individuals). Cystic fibrosis was the first medical condition for which panethnic screening was recommended, followed by spinal muscular atrophy. Next-generation sequencing allows low cost and high throughput identification of sequence variants across many genes simultaneously. Since the phrase "expanded carrier screening" is nonspecific, there is a need to define carrier screening processes in a way that will allow equitable opportunity for patients to learn their reproductive risks using next-generation sequencing technology. An improved understanding of this risk allows patients to make informed reproductive decisions. Reproductive decision making is the established metric for clinical utility of population-based carrier screening. Furthermore, standardization of the screening approach will facilitate testing consistency. This practice resource reviews the current status of carrier screening, provides answers to some of the emerging questions, and recommends a consistent and equitable approach for offering carrier screening to all individuals during pregnancy or preconception.

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mentioning

confidence: 99%

Screening for autosomal recessive and X-linked conditions during pregnancy and preconception: a practice resource of the American College of Medical Genetics and Genomics (ACMG)

Gregg

Aarabi

Klugman

et al. 2021

Genetics in Medicine

200

333

View full text Add to dashboard Cite

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“…Camera trap surveys have identified 23 mammal species of global conservation concern, including some of the most significant tiger and leopard populations remaining in Southeast Asia (Greenspan et al, 2020). The park is also home to about 70,000 people in more than 340 villages (Clingen, 2019). Many communities continue to practice the Karen land institution of kaw (country), which refers both to a community territory and a governance system based on Karen Indigenous laws (Paul et al, 2021).…”

Section: Case Study and Methodologymentioning

confidence: 99%

Conservation for self-determination: Salween Peace Park as an Indigenous Karen conservation initiative

Abraham

Roth

Twa³

2023

AlterNative: An International Journal of Indigenous Peoples

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States have long used protected areas to consolidate control over Indigenous Peoples’ territories, undermining community-based governance and access to resources. Despite this history, Indigenous Peoples around the world are increasingly designating their own protected areas to defend ancestral territories and assert self-determination. This paper examines Indigenous conservation politics in the Salween Peace Park in Kawthoolei, an autonomous territory of the Karen (Sino-Tibetan language-speaking peoples living primarily in Burma and along the Thai-Burma border). Local villagers and the Karen National Union envision the park as a grassroots initiative for peace in an area that has suffered decades of armed conflict between the Burmese military and the Karen movement for self-determination. Using the Salween Peace Park as a case study, we engage Indigenous scholarship on politics of recognition, resurgence, and refusal. We explore intersections and tensions between these political strategies, highlighting ways that Indigenous protected areas mobilize different forms of power to advance self-determination.

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Nakaiy

Cited by 2 publications

References 0 publications

Screening for autosomal recessive and X-linked conditions during pregnancy and preconception: a practice resource of the American College of Medical Genetics and Genomics (ACMG)

Screening for autosomal recessive and X-linked conditions during pregnancy and preconception: a practice resource of the American College of Medical Genetics and Genomics (ACMG)

Conservation for self-determination: Salween Peace Park as an Indigenous Karen conservation initiative

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