The field of Human Genetics has grown dramatically in recent years, in large part due to rapid advances in new technologies for discovery and the explosion of new data and resources. Human Genetics interfaces with multiple research and clinical disciplines, with new opportunities for those with advanced training in basic science, clinical diagnostics and industry. The Master's Degree Program (M.S.) in Human Genetics provides focused graduate training through both coursework and laboratory research. It is designed for individuals seeking advanced training in genetics for employment research opportunities or for matriculation to competitive Ph.D., M.D. or other advanced degree programs. Over the past six years, 100% of our graduates have obtained employment or academic placement in areas of choice. The course of study can be completed in 2-4 semesters.

The Human Genetics MS program includes both Research and Coursework-only tracks.

Research Track: The research track allows graduate students to learn from and contribute to ground-breaking research being performed within the Department of Human Genetics. Students in this track typically matriculate in the summer or fall concurrent with acceptance into the laboratory of a faculty mentor in Human Genetics. Students will take courses and conduct laboratory research during the Fall and Winter terms culminating with acceptance of a written M.S. thesis to be completed in the summer term.

Coursework Track: The coursework-only track is a non-research track most suitable for applicants interested in matriculating to medical, law or other professional programs. Students in this track typically matriculate in the fall and complete course work during Fall and Winter terms.

The course of study in either track supports the development of critical thinkers, as students learn from world-renowned leaders in the field of Human Genetics. Students enjoy multiple opportunities for close mentorship by these experts, as well as the ability to take electives in related departments within the Medical School and elsewhere in the University of Michigan community.

The application deadline for International students is March 15th; April 1st for domestic applicants.

Prerequisites and Admission Requirements:

* Successful applicants for the M.S. Degree Program in Human Genetics will generally have a GPA of 3.0 or higher and competitive standardized test scores, but admission decisions will be based on the total package of GPA, GRE, or MCAT scores, research and other relevant experience, statement of purpose and personal statement.

** Due to difficulties caused by Covid-19 restrictions in taking GRE and MCAT examinations these examinations, while preferred, will not be required for the 2021 or 2022 admissions cycles.

Questions about the program or application process? See our FAQ section.

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Master's Degree in Human Genetics | Human Genetics | Michigan Medicine ...

Ultima CEO Gilad Almogy, Ph.D./courtesy of Ultima Genomics

The information stored within the confines of the human genome is some of the most important data we can use in the diagnosis of disease, prevention efforts and therapeutics. Despite the fact that the technology to conduct whole genome sequencing (WGS) has been around for decades, financial barriers have stood in the way not just for patients and doctors looking for information, but for researchers as well.

Leveraging over $600 million in funding and five years of hard work, Newark, California-based Ultima Genomics has designed a way to surmount that financial barrier lowering the cost of a human genome from the realm of $1,000 to just $100.

Ultima has achieved this through the use of its sequencing architecture which replaces the traditional flow cell, a channel that contains all of the surfaces where chemistry and imaging occur during sequencing, with a silicon wafer. The technology serves the same function but at a lower cost with larger surface area, allowing for billions of reads. The process is easier to scale, amounting in large volumes of genetic data, and avoids costly and complicated fluidics.

The company also touts novel scalable chemistry, which combines the speed, efficiency and read lengths of natural nucleotides with the accuracy and scalability of endpoint detection. Add machine learning at the genome scale that can deliver accurate results and youve got yourself a cost-effective and useful human genome ready for interpretation.

Why it Matters

The importance of cost goes beyond simply enabling access to a larger quantity of existing genomic solutions. It also enables qualitatively different experiments to be envisioned and executed, not just once, but routinely, Ultima CEO Gilad Almogy, Ph.D. said in an interview with BioSpace. This can enable scientists to ask new questions they previously couldnt answer, and it can change the way genomic information is incorporated into the broader healthcare system.

The $100 genome stands to make genomics research that was once thought of as impossible, possible. In 2020, an article celebrating the 20th anniversary of Nature Reviews Genetics discussed the future of genetics and genomics research. In the piece, Stacey Gabriel, senior director of the genomics platform at the Broad Institute, commented that the real promise of genome sequencing lies in true population-scale sequencing at the scale of tens of millions of individuals that would enable the comprehensive, unbiased study of the human genome and the variations found within it.

Genomic research has provided physicians with a wealth of knowledge about genes that can increase a persons risk of developing a certain condition, such as the BRCA2 gene which is linked to an increased risk of developing breast and ovarian cancer. However, without the ability to conduct large-scale studies, simply understanding the role that one gene or a handful of genetic mutations plays in developing disease is often not enough information to elucidate the genome's full impact. With scalable and cost-effective WGS, it will become much easier for researchers to understand the parties within our genome that contribute to the manifestation of disease, which could ultimately lead to targeted therapeutics.

Genomic Data can Inform Treatment

Gabriel stated that she believes WGS should become a part of the electronic health record. There are plenty of good reasons to collect and include genomic data as it relates to health and disease. Beyond using this data to understand the risk someone is at for a certain condition, genomic information can help direct treatment. For example, some cancer therapies specifically target genetic mutations or alterations that have occurred in the tumor microenvironment. If patients and physicians have access to more affordable genomic testing, they can use the information to choose a targeted therapy that will work best for them.

We envision a future where in nearly every interaction patients have with the healthcare system, their genomic information will be sequenced to reveal not just their inherited DNA, but also what changes in their bodies are encoded into circulating DNA, RNA, methylation and proteomics, Almogy said.

Early Application

The $100 genome is already proving its worth. Researchers from Stanford University utilized the low-cost genomic sequencing to investigate the trajectories in precancerous polyps to early colorectal adenocarcinoma. The paper, not yet peer-reviewed but published on bioRxiv, demonstrated the technologys ability to observe changes in DNA methylation that occur early in the malignant transformation process, providing clues as to what happens at a molecular level when a polyp turns cancerous. This type of research could one day translate into clinical use, where physicians could use genomic sequencing to detect DNA changes in cells that might signal the danger of an impending malignant tumor.

Low-cost genomics helps therapeutic development in a couple of fundamental ways, Almogy said. Firstly, many companies seek to understand the genomic drivers of disease by sequencing populations and looking for associations between variants and disease. This type of work inherently requires large numbers to be useful, and the $100 genome certainly enables larger studies in a wider variety of populations. Second, low-cost genomics enables large-scale experiments to reveal the function of many genes.

Ultima isnt prepared to stop at $100 though. As evidenced by its recent collaboration with Exact Sciences, the goal is to continue driving the price down. The companies entered into a long-term supply agreement in June aimed at lowering the cost of sequencing and improving patient access to genomics-based testing. As part of the alliance, Ultima and Exact will develop one or more of Exacts advanced cancer diagnostic tests that will be developed using Ultimas technology. Earlier in June, Ultima paired with Olink Holding AB to combine the latter's Explore assay with its sequencing system to enable larger-scale projects.

Were currently in early access mode, so were focused on optimizing the platform with our initial customers before making it available for broad commercial launch next year, Almogy explained. "Beyond that, we continue to develop improvements in the architecture, because for us the $100 genome is only the beginning and were committed to continuously [driving] down the cost of genomic information.

Originally posted here:
Here's how the $100 Human Genome will Change Medicine - BioSpace

This article discusses the roles nurses may play in bringing the benefits of genomic medicine to patients

Genomic medicine can improve patient care through supporting quicker diagnoses and enabling more tailored care. In England, genomic testing has already been introduced for patients with some rare conditions and cancers, and, as understanding of the genome increases, it is likely to become part of more care pathways. This article discusses the key roles nurses may play in bringing the benefits of genomics to patients as it becomes part of routine care, including in identifying patients for genomic testing, discussing testing with patients, referring to genetic counselling services or the relevant clinicians for targeted therapies, and personalising care plans. We also explain how the NHS Genomic Medicine Service Alliances will work with nurses to help bring genomics into mainstream healthcare.

Citation: Buaki-Sogo M, Percival N (2022) Genomic medicine: the role of the nursing workforce. Nursing Times [online]; 118: 8.

Authors: Maria Buaki-Sogo is lead nurse, North Thames Genomic Medicine Service Alliance; Natalie Percival was formerly chief nurse, North Thames Genomic Medicine Service Alliance, and is currently director of nursing, systems and professional development at NHS England.

Genomics is the study of all the deoxyribonucleic acid (DNA) the genome of an organism. All living organisms, whether single-celled bacteria, multicellular plants, animals or humans, have DNA, which contains the information needed for an organism to grow, survive and reproduce. DNA is arranged into genes, a sequence of nucleotides which are code for proteins that are essential for building and repairing an organism. There are also non-coding regions, which influence how these genes interact. A genome includes both the genes and the non-coding regions.

Human DNA is made from four separate chemical bases, known as A (adenine), C (cytosine), G (guanine), and T (thymine), with the whole genome made up of more than three billion DNA bases. Every humans genome is around 99.9% the same, but that 0.1% difference equates to around three million differences between one persons DNA and the next persons (Health Education England Genomics Education Programme, nd). Some of these differences in our DNA will have no impact on a persons health, but other variations may cause a genetic condition, influence our predisposition to develop certain conditions, and can even affect how we respond to some drugs.

Over the past decade, transformative advances in DNA sequencing technologies have enabled a vast expansion in human genome analysis for the purpose of diagnosing and managing human diseases. The scope of genetic testing now ranges from analysing a single gene to using multigene panels which can analyse from five to 100 genes known to be associated with the development of a condition or a collection of clinical symptoms through to whole genome sequencing, where it is possible to determine the entire human genome (International Human Genome Sequencing Consortium, 2004).

The use of this more advanced genomic testing has the potential to deliver tangible improvements for patients, including effective and quicker diagnosis of rare conditions, personalised treatment, better care for those with inherited conditions and cancer, and a clearer understanding of the underlying cause of diseases.

The role of the nursing workforce will be to offer genomic testing with confidence

In England, genomic testing, including whole genome sequencing, is now available for patients with certain rare diseases and cancers to enable better prediction, diagnosis and treatment.

In clinical practice, whole genome sequencing still requires the application of virtual panels for the analysis. As understanding of the genome and capacity in the NHS evolves, genomic testing will increasingly become part of routine care pathways for more conditions.

As a nursing community, we must be ready to adapt our current practice to reflect these innovations and ensure that our patients have access to the benefits that genomic testing can offer.

Nurses are often in an ideal position to offer support and advice to patients, whether they are living with cancer, long-term conditions or inherited genetic disorders, which need lifelong care. We work across a broad range of settings on the front line, are committed to our patients, and are typically strong and empathetic communicators, as described in the values set out in The NHS Constitution for England (Department of Health and Social Care, 2021). Nurses are vital to assisting the NHS in offering the latest advances, and it is important that we understand how genomics will affect our practice and the experiences of our patients.

Specialist nurses will work in partnership with the clinical team to offer tailored information and specific genetic testing relevant to the patients condition to inform treatment decisions. Senior nurses will also be able to support junior nurses to gradually acquire knowledge and understanding of genomic medicine to embed in their practice.

For nurses who have a lot of patient contact, gaining knowledge on the core principles of genomics may help them increase uptake of genetic screening, signpost service users to the right place to seek health advice, and could also help to address inequalities in access to genomic medicine services.

Genomic medicine is already embedded in some oncology nursing pathways. At present, genomic testing is available for inherited diseases or forms of cancer included in the National Genomic Test Directory (NHS England, 2022). Use of genomic testing could help the NHS reach its aim of diagnosing 75% of all cancers at stage 1 or 2 by 2028 (NHS England, 2019).

The North Thames Genomic Medicine Service (GMS) Alliance is working in partnership with key stakeholders to support the nursing workforce to acquire the skills and the level of knowledge to accomplish this mission effectively and efficiently. In some places, patients are driving forward conversations and we recognise the importance of patient involvement in establishing the best way to influence care pathways. Patient and public involvement is a key part of the North Thames GMS Alliances strategy, and collaborative work with patient groups is being developed.

With the right level of understanding of genomics, the support of their local trusts and the local systems, the role of the nursing workforce will be to offer genomic testing with confidence, helping to embed routine genetic testing in the NHS. This will mean:

Evidence suggests that continuity of care positively affects health outcomes and patient experience (Lautamatti et al, 2020). Nurses are often well positioned to provide this and to build strong and trusting relationships with patients and their relatives.

Consequently, we can help our patients access better care, understand the impact of inherited disease on their lives, and give them the opportunity to plan for a better quality of life. Patients and their families will have access to more precise medicine that will give clinicians the ability to offer targeted and personalised treatment, based on their unique genome (pharmacogenomics).

As genomic medicine continues to evolve and additional tests become available that can benefit patient care, nurses can also help define how these tests can be brought into practice across their specialities. We are right at the beginning of the use of genomic medicine in the NHS, and there is a real opportunity for nurses to be part of service design. We have the chance to help improve guidelines across many areas of clinical practice and be international leaders (Tonkin et al, 2018).

By embedding genomic medicine in mainstream care and providing nurses (and other practitioners such as midwives) with appropriate training on ordering genomic testing to patients, practitioners will also be able to embrace their autonomy and clinical judgement to provide genomic services to patients more effectively and efficiently.

There are, of course, ethical issues to consider when discussing the widespread use of genomic medicine in the NHS. For example, we know that some patients will not want to know their risk for future conditions or their carrier status. There is also an ongoing national discussion around whether sequencing newborn babies for rare conditions beyond the current heel-prick test should become part of practice, and how this data and consent would be managed. As nurses, it is important that we bring our knowledge and perspectives to these conversations as the genomic medicine system is being designed and embedded in the NHS (Box 1). For now, where genetic tests provide actionable results that can help us improve patient care and outcomes, nurses are vital to making these accessible for patients in an equitable way and supporting them to make informed decisions.

Box 1. Embedding genomics services in the NHS

We believe that nurses are a key element in the implementation of routine genetic testing in the NHS, but for nurses to assist with better use of genomics in mainstream healthcare they will need financial aid for training and support to acquire the appropriate skills and knowledge. Existing workforce pressures, a historical lack of secure funding on education and training, as well as inequalities in health, are all barriers that need to be acknowledged and addressed.

There is some support already being put in place for the nursing community through the establishment of seven regional GMS Alliances established in England in January 2021. One of the main purposes of the GMS Alliances is to provide training and education opportunities, which will help health professionals, including nurses, to increase their knowledge of genomics and keep up to date with how this may affect their clinical practice. There are also several training and education resources provided by Health Education England at national and regional levels, including continuing professional development programmes supported by the educational teams within each GMS Alliance (Health Education England Genomics Education Programme, nd).

At a service development level, nurses are also being consulted on how genomic medicine can work within their organisations (see Box 2 for an example of how this is used in practice). The GMS Alliances are working with healthcare organisations and nurses to improve current frameworks and pathways of care, tackling inequalities in accessing genomic testing, and promoting patient-centred care via the increased presence of patient and public involvement groups.

Box 2. Lynch syndrome: an example of genomic medicine in current practice

There is a need for further training opportunities to help prepare the nursing workforce for the future, and for ongoing consultation to ensure genomics is implemented in the right way. Powerful and influential nursing leadership is required in the UK to embed the genomics framework into nursing education pathways at all levels of practice and make sure the impact of genomics on the nursing workforce is understood and considered in decision making. This is to ensure that nurses can develop the core competencies and confidence in their understanding of genomic medicine required to meet the service users needs.

GMS Alliances are working with nurses, patients and the public to build trust in genomics and to support the multiprofessional workforce to use genomics safely and effectively. By embedding genomics into the mainstream health service, our aim is to deliver improvements for patients, including better and quicker diagnosis of rare conditions, personalised treatment, and care for those with inherited conditions and cancer, as well as building a better understanding of the underlying cause of many diseases. To achieve this, nurses need support to develop genomics literacy and begin to use genetic testing within their care pathways.

Bowel Cancer UK (2018) Testing for Lynch syndrome what you need to know. bowelcanceruk.org.uk, 9 April (accessed 23 June 2022).

Department of Health and Social Care (2021) The NHS Constitution for England. gov.uk , 1 January (accessed 23 June 2022).

Health Education England Genomics Education Programme (nd) What is genomics? genomicseducation.hee.nhs.uk (accessed 27 June 2022).

Hegde M et al (2014) ACMG technical standards and guidelines for genetic testing for inherited colorectal cancer (Lynch syndrome, familial adenomatous polyposis, and MYH-associated polyposis). Genetics in Medicine; 16: 1, 101-116.

International Human Genome Sequencing Consortium (2004) Finishing the euchromatic sequence of the human genome. Nature; 431, 931-945.

Lautamatti E et al (2020) Continuity of care is associated with satisfaction with local are services. BMC Family Practice; 21: 1, 181.

Li X et al (2021) Recent advances in Lynch syndrome. Experimental Haematology and Oncology; 10: 37.

NHS England (2022) National Genomic Test Directory. england.nhs.uk (accesssed 5 July 2022).

NHS England (2019) The NHS Long Term Plan. NHSE.

St Marks Hospital (2019) Lynch Syndrome: Information for Patients. North West Thames Regional Genetics Service.

Tonkin ET et al (2018) The first competency-based framework in genetics/genomics specifically for midwifery education and practice. Nursing Education in Practice; 33: 133-140.

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Genomic medicine: the role of the nursing workforce - Nursing Times