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Powering Potential 2019 - Human Genomics in NZ

a list of resources and information for the Powering Potential 2019 group working on "the which doctors" question (Human Genomics in NZ)

A list of resources for Powering Potential students working on ‘The Which Doctors’ question.

A slightly friendlier version of this site can be seen here.

You can scan the below on your phone/tablet to access this site:

NOTE

If you want to add a question for Miles, or a discussion point, or even something that you found that you want to share, you can do so using this site.

steps

  1. click on the ‘issues’ link near the top of this page (or click here)
  2. click ‘new issue’
  3. add an issue title and then put your issue, question, content into the large text box.
  4. when you’re ready click ‘submit new issue’
  5. Miles will be notified, well done!

What is Powering Potential?

If you are here you probably already know this, but just in case:

Year 12-13 students who have a passion for science and technology are selected to work together in teams of five to help solve some of the big science issues.

This unique opportunity will see New Zealand’s most promising young students come together to seek answers to some of the big problems supported and guided by mentors.

source: link

The Human Genome Project

Then

Now

minION

source: https://tinyurl.com/sblxlra

For interest: nanopore sequencing is an amazing ‘real-time’ technology. If you’d like to see a really good overview this youtube video from Dr David Eccles is excellent: link

Whole genome sequencing

TED talk - 15 mins (link)

Secrets, disease and beauty are all written in the human genome, the complete set of genetic instructions needed to build a human being. Now, as scientist and entrepreneur Riccardo Sabatini shows us, we have the power to read this complex code, predicting things like height, eye color, age and even facial structure – all from a vial of blood. And soon, Sabatini says, our new understanding of the genome will allow us to personalize treatments for diseases like cancer. We have the power to change life as we know it. How will we use it?

This TED talk covers several of the points and topics we discussed on the afternoon of the 16th^ Dec 2019. Please use it only as a primer or refresher, it’s just a snap shot of information presented from a single viewpoint.

some selected articles/news/etc to get you started

Below from here:

The Ethical, Legal, and Social Implications (ELSI) program was founded in 1990 as an integral part of the Human Genome Project. The mission of the ELSI program was to identify and address issues raised by genomic research that would affect individuals, families, and society. A percentage of the Human Genome Project budget at the National Institutes of Health and the U.S. Department of Energy was devoted to ELSI research.

The ELSI program focused on the possible consequences of genomic research in four main areas:

Benefits and implications of learning about your DNA

Personal genome sequencing is uncharted waters in our society. The benefits and implications of sequencing are likely to be connected, complex, and largely unknowable until years have passed and the consequences are examined across several generations. However, thinking through the issues surrounding personal genomics now, rather than later, may help to avoid potential pitfalls and ensure that the good outweighs the bad.
link

facial recognition
insurance
What is genetic discrimination?

Genetic discrimination occurs when people are treated differently by their employer or insurance company because they have a gene mutation that causes or increases the risk of an inherited disorder. Fear of discrimination is a common concern among people considering genetic testing.

Several laws at the federal and state levels help protect people against genetic discrimination. In particular, a federal law called the Genetic Information Nondiscrimination Act (GINA) is designed to protect people from this form of discrimination.

GINA has two parts: Title I, which prohibits genetic discrimination in health insurance, and Title II, which prohibits genetic discrimination in employment. Title I makes it illegal for health insurance providers to use or require genetic information to make decisions about a person’s insurance eligibility or coverage. This part of the law went into effect on May 21, 2009. Title II makes it illegal for employers to use a person’s genetic information when making decisions about hiring, promotion, and several other terms of employment. This part of the law went into effect on November 21, 2009.

GINA and other laws do not protect people from genetic discrimination in every circumstance. For example, GINA does not apply when an employer has fewer than 15 employees. GINA also does not protect against genetic discrimination in forms of insurance other than health insurance, such as life, disability, or long-term care insurance.

Genomics Aotearoa

Genomics Aotearoa is an agile, leading-edge and collaborative platform, established to ensure that New Zealand is internationally participating and leading in the rapidly developing fields of genomics (the study of the genome, the complete set of genetic material present in a cell or organism) and bioinformatics (the development of methods and software tools for understanding the biological data derived from genomics).

Te-Mata-Ira-Genome-Research-Guidelines

Māori ethical frameworks recognise that all research in New Zealand is of interest to Māori and outline community expectations of appropriate behaviour in research to deliver the best outcomes for Māori.

Te Mata Ira: Guidelines for genomic research with Māori

M Hudson, A Beaton, M Milne, W Port, K Russell, B Smith, V Toki, L Uerata, P Wilcox
October 2016

Te Mata Ira (PDF)

He Tangata Kei Tua: Guidelines for biobanking with Māori

M Hudson, A Beaton, M Milne, W Port, K Russell, B Smith, V Toki, L Uerata, P Wilcox
October 2016

He Tangata Kei Tua (PDF)

The Global Alliance for Genomics and Health (https://www.ga4gh.org/)

Enabling responsible genomic data sharing for the benefit of human health

The Global Alliance for Genomics and Health (GA4GH) is a policy-framing and technical standards-setting organization, seeking to enable responsible genomic data sharing within a human rights framework.

Rakeiora: A pathfinder for genomic medicine in Aotearoa/New Zealand

A programme to improve genomic knowledge that will impact on the wellbeing of New Zealanders is being co-developed and co-governed with Māori. It is a “pathfinder” to test options to acquire, protect, use and store genomic datasets for use in healthcare research in Aotearoa New Zealand.

Estonia genome project

Estonian Biobank and Personalised Medicine Initiative Estonia launched a population based, voluntary, longitudinal prospective research oriented biobank in the year 2000 with a broad informed consent. The original biobank grew to 52,000 participants with a rapid increase in 2018 to 100,000 participants. Linking health data resources is currently ongoing. Main genetic feedback use cases have been focussed around polygenic risk scores for diabetes, cardiovascular diseases, breast cancer, and early menopause. A recent pharmacogenetic use case established that almost everyone carries a variant of some of the drug metabolising genes that would require change of dosage for at least some drug. A cascading recall study has been performed for familial hypercholesterolemia genetic variant carriers. Based on such successes the implementation of linking the genetic data to health IT systems is being planned on the national level. source: https://www.dtls.nl/2018/11/26/estonian-biobank-presented-by-jaak-vilo-elixir-estonia-at-ubc-seminar/

The purpose of ELIXIR is to construct and operate a sustainable infrastructure for biological information in Europe to support life science research and its translation to medicine and the environment, the bio-industries and society. These resources include databases, software tools, training materials, cloud storage and supercomputers.

Some news articles:

Taonga genomes

Taonga species are native birds, plants and animals of special cultural significance and importance to Māori.

Taonga more generally

Some interesting tweets:

Summer Internship for Indigenous Genomics Aotearoa

The SING Aotearoa programme is designed to develop indigenous understanding of genomics alongside some of the best researchers in New Zealand and the world. It is a week-long residential internship programme providing participants with knowledge and experience in wet-labs (biological samples, DNA), dry labs (computer analysis, biostatistics) and simulation labs (cultural and ethical scenarios).

Significant advances in the fields of genetics and genomics sees an increasing focus on Maori populations and indigenous species. Research conducted in Aotearoa New Zealand should involve consultation with Iwi Māori and it is important that Māori understand the technical, ethical and cultural issues when engaging with researchers in these projects.

Conference 2020: (link)