Dr Mihaela Boca - Neurology

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GMC Number: 7416746

Year & location of first qualification: 2010, Cluj Napoca

Specialty: Neurology

Clinical interests: Movement disorders, Parkinson’s disease, dystonia, tremor, deep brain stimulation, advanced therapies for Parkinson’s

Secretary: Tracy Chiddy

Telephone number: 0117 414 4437

Mihaela Boca is a Consultant Neurologist with a specialist interest in Movement Disorders.  In her doctoral research, Mihaela investigated the neural correlates of continuous motor control using a behavioural paradigm and intracranial local field potential recordings. Mihaela’s research background includes a clinical research fellowship at the Brain Centre where she worked on the Glial cell derived neurotrophic factor trial. Mihaela joined NBT as a Consultant in 2020 and her clinical interests include Advanced Therapies for Movement Disorders, Deep Brain Stimulation and Dystonia. In 2020, Mihaela set up the first regional Complex Dystonia clinic.

About ReMemBr Group

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The ReMemBr Group (Research into Memory, the Brain and dementia)

Our team includes Neurologists, Psychologists, Researchers and Nurses from both University of Bristol and North Bristol NHS Trust.
 
We diagnose and treat patients with dementia and also offer clinical research opportunities to people with and without dementia. Our research focuses on early diagnosis of dementia, understanding how memory is stored in the brain and how this can be enhanced and clinical trials of treatment in dementia.

"We run one of the only brain health clinical services in the country.  We see people with mild memory problems, offer precision early diagnosis or exclusion of dementia.  We also offer evidence based brain health lifestyle advice and access to research which aims to delay the onset of dementia".

What is dementia?

The word ‘dementia’ is used to describe symptoms of memory decline and difficulties with thinking, problem-solving or language that are severe enough to affect daily life.

There are many different causes of dementia. The most common cause is Alzheimer’s disease.

 

Miss Michelle Mullan - Oncoplastic Breast Surgery

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GMC Number: 4180625

Miss Michelle Mullan

Year & location of first qualification: University of Bristol 1995

Specialty: Oncoplastic Breast Surgery

Clinical interests: Breast cancer, benign breast disease, NHS Breast Screening work, teenagers with breast problems

Secretary: Louise O' Leary

Telephone number: 0117 414 7000

Michelle qualified from the University of Bristol in 1995 and underwent her surgical training in Bristol and the West Midlands. She has always been interested in breast disease, and undertook research at The Royal Surrey County Hospital in sentinel lymph node biopsy, as part of the Medical Research Council ALMANAC Trial. Michelle has been appointed as a Trustee for the Association of Breast Surgery and sits on the Clinical Practices and Standards Committee.

Her advanced surgical training in Oncoplastic Breast Surgery was in the UK and the United States, practising at the University of Michigan, Ann Arbor, and the Henry Ford Institute in Detroit. She was admitted as a Fellow of the Royal College of Surgeons of England in 2006. In 2008 Miss Mullan won the European Society of Surgical Oncology Travelling Scholarship and spent her time at the Nottingham Breast Institute. Her first consultant appointment was in Worcestershire in 2008, where she was Lead Cancer Clinician for the county. She was appointed to her current position as an Oncoplastic Breast Consultant at North Bristol NHS Trust in 2019.

Her clinical interests include breast cancer surgery using oncoplastic techniques (surgery with minimal scarring), sentinel lymph node biopsy, lipofilling of breast defects (Colman fat transfer), breast reconstruction, nipple reconstruction and nipple tattooing.

Mullan

Kidney Transplant and Food

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This FAQs will give you information about foods to choose after a kidney transplant.  You will speak to a dietitian after your operation.  They will give you a booklet containing more information.  Some people may have medical reasons why they need different information.  Always follow advice from your own dietitian or doctor.

What should I eat to keep me well after a kidney transplant?

Most people will benefit from eating a healthy diet.  Some people have side effects from their medication, such as a bigger appetite, weight gain, high blood cholesterol and high blood glucose levels.   Small changes to your eating can help to manage your blood pressure, blood glucose and reduce your risk of heart disease. 

The Eatwell Guide on the NHS website shows how much of what we eat should come from each food group for a healthy diet.  You don’t need to get this balance with every meal or snack.  Try to get the balance right over a day.

What if I have diabetes?

Managing your blood glucose levels can give you more energy, good sleep, healthier skin and gums.  Also this can prevent problems with your nerves, eyes, feet and heart.  Find out more about Complications of diabetes at www.diabetes.org.uk

Some people may develop diabetes.  This is known as new onset diabetes after transplant (NODAT).

Use The Eatwell Guide to eat healthily and aim to get to or stay at a healthy weight.  Find out more about diet and diabetes at Diabetes UK.

Should I still eat less salt?

Yes - Eating less salt can improve your blood pressure.  Around ¾ of the salt we eat comes from salt in manufactured foods.  This salt FAQ will give you more information.

Salt substitutes such as LoSalt, Saxa So Low and Solo are not recommended for people with kidney problems.

Do I still need to eat less potassium and phosphate?

You can usually start to eat foods high in potassium and phosphate again. Sometimes blood levels can be high and you may need to limit some foods.  Your dietitian, consultant or specialist nurse will tell you if this is needed by looking at your latest blood test.

This potassium FAQs will give you information about foods to choose if you have high blood potassium levels.

This phosphate FAQs will give you information about foods to choose if you have high blood phosphate levels.

How do I reduce my risk of food poisoning?

After your transplant you will be on medication to stop your immune system rejecting your new kidney.  This medication weakens your immune system and can increase the risk of food poisoning. You can reduce your risk by being careful about what you eat and how prepared and cooked.  The information below is a short guide.  Your dietitian will give you more information.

Here are some recommendations:

• Make sure your hands, work surfaces, utensils, chopping boards, dishcloths and tea towels are all clean when handling, preparing and cooking food
• Chill and store foods properly.  Eat them by the ‘use by’ dates
• Don’t let raw foods drip on or touch cooked foods, especially meat, fish and poultry
• Don’t handle food if you’ve had diarrhoea or vomiting recently
• Wash fruit, vegetables and salad before use
• Avoid unpasteurised soft cheese, soft blue cheese and cheese with rind such as brie, camembert, unless it is cooked until piping hot
• Milk should be pasteurised or UHT
• Avoid yoghurts labelled ‘Probiotic’ or ’Bio’
• Avoid eggs with runny yolks and foods with raw egg in them. Use eggs with a ‘red lion’ stamp, store them in the fridge and cook them until yolks are solid
• Avoid all raw or undercooked meat, poultry, fish and shellfish
• Avoid rotisserie chickens, buffets and foods from the deli counter. Choose pre-packaged foods instead
• Buy cooked meat or fish in sealed packs and eat within 24 hours of opening
• Avoid pâté, unless it is tinned

How do I reduce my risk of food poisoning when eating out or eating abroad?

• Avoid eating out or takeaways for the first 6-8 weeks.  After that only eat from places known to be clean and hygienic.  You can check the food hygiene rating of businesses here https://ratings.food.gov.uk/  This gives you information about how clean a business is.
• Avoid takeaway rice.  It is important rice is freshly cooked and not reheated
• Avoid food from buffets, salad bars and street stalls
• Make sure hot food is piping hot and freshly cooked
• Be especially careful if travelling abroad.  Avoid tap water, ice and foods washed in tap water
More detailed information can be found here www.food.gov.uk/food-safety and Food and water abroad - NHS

What is the risk of Hepatitis E Virus?

Hepatitis E virus (HEV) causes liver disease.  There have been some cases in people after a transplant.  It is thought the HEV comes from under-cooked pork or pork products (such as sausages, bacon, cured meats and offal).  It is important to cook all meat thoroughly including barbequed meat.  If you have further questions about this please speak to your doctor, nurse or dietitian.

Which foods might affect my transplant medications?

Grapefruit, grapefruit juice, pomelo, pomelo juice, some herbal remedies and high doses of vitamins can affect transplant medications, so should be avoided.  Discuss any vitamins or supplements (such as herbal or homeopathic products) with the transplant team before taking. 

Starfruit can be harmful to people with kidney disease and you are recommended to avoid eating it.

How can I protect my bones?

Transplant medications such as steroids can weaken your bones.  To reduce the risk of weak bones and fractures you need enough calcium and vitamin D.

The best sources of calcium are milk, cheese, yoghurt, tofu, tinned fish with bones, sesame seeds, tahini paste and foods with added calcium such as some plant milks and cereals.  Beans, lentils, nuts, dried figs, white bread and white flour products are also good sources.

Vitamin D helps you absorb calcium from your food.  It is found in eggs, oily fish, red meat and foods with added vitamin D such as skimmed milk powder, margarine, low fat spread, some cereals and plant milks.  You can find more information on foods for strong bones on the NHS website.

The best source of vitamin D is sunlight on the skin, but medications can increase your risk of skin cancer. Find out more on the british association of dermatologists.

Your calcium and vitamin D levels can be measured and supplements prescribed by your doctor if needed. 

Lifestyle factors such as regular weight-bearing exercise, not smoking, drinking less alcohol and keeping to a healthy weight can also help keep your bones healthy.

Peritoneal Dialysis and Food

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This FAQs will give you information about foods to choose if you are having peritoneal dialysis (PD) to treat your kidney disease.  Some people may have medical reasons why they need different information.  Always follow advice from your own dietitian or doctor.

You may not need to change what you eat because you have started PD.  Your dietitian will speak to you shortly after starting PD to talk about what you eat and offer you information.

What should I eat to keep me well on Peritoneal Dialysis?

You may need to eat more protein foods after you start dialysis.

Eating less salt can improve your blood pressure and make you feel less thirsty.

You may need to limit the amount you drink if recommended by your doctor, nurse or dietitian.

Some people need to reduce foods high in potassium and phosphate. Your dietitian will tell you if you should do this.

Starfruit can be harmful to people with kidney disease and you are recommended to avoid eating it.

How can I eat more protein foods?

Protein foods include meat, fish, chicken, eggs, milk, yoghurt, cheese, lentils, beans, Quorn and tofu.  These foods are important for maintaining your strength, repairing muscles, healing wounds and fighting infection. 

PD increases your need for protein as some is lost during dialysis.  It is important to make sure you are eating enough protein now.  Not eating enough protein can cause muscle loss and weakness.  Try to eat 2 to 3 larger portions of protein foods a day.  Your dietitian can guide you on portion sizes to meet your protein needs.

What should I do if I have lost my appetite?

Eating well is important to help you feel better and cope with any treatment you may need.  Many people find the following can help them to eat more:

• Eating little and often throughout the day
• Eating small nourishing snacks between meals such as cereal and milk, cheese and biscuits, cakes, biscuits, desserts, pastries
• Having a snack, sandwich or a milky drink if you cannot manage your normal meal
• Trying easy to prepare high protein meals such as cheese, scrambled egg, poached egg on toast or omelette
• Using full fat and full sugar versions of foods and drinks such as full fat milk, full fat yoghurt instead of diet or low fat ones
• Trying to eat more on days or at times you feel better
• Spreading butter, margarine, honey, jam and marmalade thickly on bread, croissants, crumpets
• Adding honey or sugar to cereals and puddings
• If you have diabetes or you are limiting potassium or phosphate speak to your dietitian for more information

Should I cut down on salt?

Yes – most people eat too much salt.  Eating less salt can improve your blood pressure. If you have been advised to limit how much you drink, less salt reduces fluid build-up in your body (oedema) and makes you less thirsty.

Around ¾ of the salt we eat comes from salt in manufactured foods.  This salt FAQs will give you more information.

Salt substitutes such as LoSalt, Saxa So Low and Solo are not recommended for people with kidney problems.

What about fluid?

Most fluid comes from drinks.  The body passes out extra fluid in your urine.  You may notice you are passing less urine.  Some fluid is removed by dialysis.  If you drink more than is being removed this can cause sudden weight gain, swollen ankles, breathlessness and a rise in your blood pressure.

If this happens, your Doctor, nurse or dietitian may recommend you limit the amount you drink. It is important you also eat less salt to reduce the fluid build-up and feel less thirsty.

Ideas to help if you need to reduce your fluid:

• Try to have fewer drinks and spread your fluid throughout the day
• Use a small cup or glass for drinks
• If eating sloppy or liquid foods such as such as soup, custard, yoghurt, ice-cream, reduce how much you drink
• Spicy and salty foods can make you thirsty so try to reduce these foods
• Try using plastic ice-cubes in drinks to save extra fluid
• Rinsing your mouth, gargling with mouthwash and brushing your teeth can help freshen your mouth
• You can quench your thirst with slices of lemon, orange, frozen grapes, pineapple cubes, boiled sweets, sugar free mints and chewing gum
• If you have a dry mouth, artificial saliva sprays may help such as Glandosane (available on prescription)

What if I have diabetes?

Managing your blood glucose levels is important to reduce the risk of more damage to your kidneys. 

Good control of your blood glucose levels can give you more energy, restful sleep, healthier skin and gums and prevent problems with your nerves, eyes, feet, heart.  Find out more about Complications of diabetes at diabetes.org.uk.

If you are on PD, well controlled diabetes can improve how well you dialyse.

You may find your blood glucose levels change when you start dialysis.  Continue to check your blood glucose levels regularly.  You can speak to your diabetes nurse or doctor about your diabetes tablets or insulin to help manage your levels. 

After you start PD you will speak to a dietitian for advice on eating well with diabetes and how to balance this with dialysis diet recommendations.

Should I eat a high fibre diet?

Constipation is a common problem with peritoneal dialysis.  This may cause poor drainage of dialysis fluid.  Eating a diet high in fibre can help you to avoid constipation.

Foods to choose to help you to eat more fibre:

• Wholemeal or granary bread
• Wholegrain cereals such as shredded wheat, weetabix, porridge
• Wholewheat pasta, brown rice and wholemeal flour
• Pulses such as beans, lentils and peas
• Fruit and vegetables - aim to eat 5 portions each day and fresh, frozen or tinned can all be eaten. The Eatwell Guide on the NHS website can give you more information.

Do I need to eat less potassium?

Some people on HD will need to eat less potassium.  It depends on your blood potassium levels.  If your potassium level is regularly above 5.5mmol/l, you may be recommended to eat less potassium.   If you were limiting potassium prior to starting HD you may need to continue. 

Your levels will be checked each month and your dietitian will provide you with information.  Sometimes there can also be other causes for a high potassium level which will be looked at by your dialysis team.  This potassium FAQs will give you information about foods to choose if you have high blood potassium levels.

Do I need to eat less phosphate?

Some people on PD will need to eat less phosphate.  It depends on your blood phosphate levels.  If your phosphate level is regularly above 1.5mmol/l, you may be recommended to eat less phosphate.  If you were limiting phosphate prior to starting HD you may need to continue. 

Your levels will be checked each month and your dietitian will provide you with information.  This phosphate FAQs will give you information about foods to choose if you have high blood phosphate levels.

If your blood levels stay high, you may also be prescribed tablets called ‘phosphate binders’. These are taken with food to reduce the amount of phosphate absorbed from food.  Your dietitian, doctor or pharmacist can tell you how and when to take these tablets.

Why have I been prescribed a renal multivitamin tablet?

Water soluble vitamins are lost during the dialysis process.  A multivitamin tablet suitable for people with kidney disease is usually prescribed to replace those lost.  You are recommended to discuss any supplements with your dietitian or doctor before taking.

Potassium in Food

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This FAQs will give you information about foods to choose if you have high blood potassium levels and kidney problems.  Some people may have medical reasons why they need different information.  Always follow advice from your own dietitian or doctor.

Do I need to eat less potassium?

Not all people with kidney disease need to follow a low potassium diet.  It depends on your blood potassium levels and kidney function.  If your blood potassium level rises above 5.5mmol/l, you may be recommended to eat less potassium. 

Sometimes there can be other causes for a high potassium level that will be looked at by the doctor first.  You don’t need to reduce potassium in your diet unless you have been advised to by your doctor or dietitian.

What is potassium?

Potassium is a mineral found in many foods.  It helps our nerves, muscles and heart to work properly.  Our kidneys help to control the level of potassium in the blood.  Potassium not needed by the body is usually passed out in the urine.  The normal range for potassium in the blood is 3.5 – 5.3mmol/l.

When your kidneys are not working properly, potassium can build up in your blood.  A high level of potassium can be dangerous, as it can affect your muscles and heart.

What foods are higher in potassium?

Some food and drinks are higher in potassium. These include:

• Some fruits such as apricots, avocado, bananas and dried fruit
• Some vegetables such as mushrooms, parsnips, spinach and tomatoes
• Potatoes which have not been boiled such as chips and jacket potatoes
• Snacks such as potato crisps, nuts, chocolate and liquorice
• Drinks such as coffee, malted milk drinks and fruit juices
• Alcoholic drinks such as cider and strong ales
• Soups containing tomatoes and vegetables
• Salt substitutes such as Losalt, Saxa So low and Solo

If you have diabetes you may have been advised to eat more fruit, vegetables and nuts. Your dietitian can advise you on appropriate quantities and help you choose lower potassium food and drinks.

Where can I find more information on reducing my potassium intake?

If you need to change your diet, you can ask your doctor about a referral to a dietitian for more advice.  You can find more information on Lifestyle - diet, fluids and exercise on the Kidney Care UK website.

Eating Well for your Kidneys

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This FAQ will give you information about foods to choose if you have chronic kidney disease (CKD).  Some people may have medical reasons why they need different information. Always follow advice from your own dietitian or doctor.

Most people with CKD will benefit from a healthy diet.  Simple changes to your eating will help to control your blood pressure, blood glucose levels and reduce your risk of heart disease.  This can help protect your kidneys from further damage and help you to feel well.

What should I eat to help my kidneys?

The NHS Eatwell Guide on the NHS website shows how much of what we eat overall should come from each food group for a healthy, balanced diet.  You don’t need to get this balance with every meal or snack but try to get the balance right over your day. 

Starfruit can be harmful to people with kidney disease and you are recommended to avoid eating it.  

Drink plenty of fluids, unless your doctor has advised otherwise.  The Eatwell Guide recommends 6-8 cups or glasses a day.  If you have CKD aiming to drink at least 8-10 cups a day can help the kidneys by diluting your urine

Should I eat less salt?

Yes – most people eat too much salt.  Eating less salt can improve your blood pressure and slow down worsening of your kidney function.  If you have been advised to limit how much you drink, eating less salt reduces fluid build-up in your body (oedema) and makes you less thirsty.

Around ¾ of the salt we eat comes from salt in manufactured foods.  This salt FAQ will give you more information.

Salt substitutes such as LoSalt, Saxa So Low and Solo are not recommended for people with kidney problems.

Do I need to lose weight?

Getting to and staying at a healthy body weight will help you to control your blood pressure and blood cholesterol levels which can help to protect your kidneys from further damage. Check if you are a healthy weight on the NHS live well bmi calulator.

Following the Eatwell Guide will help ensure you follow a healthy diet whilst losing weight.  If you would like more detailed information there is an NHS 12 week weight loss guide.

What about alcohol?

If you have kidney problems you should follow the Government's sensible drinking guidelines at www.nhs.uk unless you have been given different advice by a healthcare professional.

What if I have diabetes?

Managing your blood glucose levels is important to reduce the risk of more damage to your kidneys. 

Good control of your blood glucose levels can give you more energy, restful sleep, healthier skin and gums and prevent problems with your nerves, eyes, feet and heart.  Find out more about Complications of diabetes at www.diabetes.org.uk

It is important to follow any diet and lifestyle advice you have previously been given to help control your diabetes.  The recommendations for eating well with diabetes are based around the The Eatwell Guide on the NHS website.  This is the same healthy diet that is recommended for the general population and should be combined with aiming to get to or stay at a healthy weight.  Find out more about diet and diabetes at Healthy eating with Diabetes and at Diabetes UK.

If your kidney function reduces or you start dialysis, you may be advised to follow other dietary advice such as a low potassium or low phosphate diet.  Balancing this can be difficult so you can ask to speak to a dietitian.

What about protein?

Protein foods include meat, fish, chicken, eggs, milk, cheese, lentils, beans, Quorn and tofu.  These foods are important for maintaining your strength, repairing muscles, healing wounds and fighting infection.  Most people eat too much protein.  When you eat these foods the kidneys need to get rid of the waste.  If your kidneys are not working well, this waste will build up in the blood which can make you feel less well.  

As part of a balanced diet, it is recommended to:

• Keep to 2 to 3 medium sized portions of protein foods a day
• Eat 5 portions of  fruit and vegetables
• Base your meals on starchy foods e.g bread, rice, pasta, potatoes.  Choose wholegrain or higher fibre versions where possible
• Use The Eatwell Guide on the NHS website and the Portion sizes food fact sheet which is available at www.bda.uk.com to get the right balance between the different food groups

Do I need to eat less potassium?

Not all people with kidney disease need to follow a low potassium diet.  It will depend on your blood potassium levels and kidney function.  You don’t need to reduce potassium in your diet unless you have been advised to by the doctor or dietitian.  This potassium FAQ will give you information about foods to choose if you have high blood potassium levels.

Do I need to eat less phosphate?

This will depend on your kidney function and if the level of phosphate in your blood is above the normal range.  Eating less high phosphate foods can help you to control the level of phosphate in your blood.  You don’t need to reduce phosphate in your diet unless you have been advised to by the doctor or dietitian.  This phosphate FAQ will give you information about foods to choose if you have high blood phosphate levels.

If your blood levels stay high, you may also be prescribed tablets called ‘phosphate binders’. These are taken with food to reduce the amount of phosphate absorbed from food.  The dietitian, doctor or pharmacist can tell you how and when to take these tablets.

Should I take a multivitamin supplement?

No, do not take any multivitamin or mineral supplements unless you have discussed this first with your doctor, pharmacist or dietitian.  A healthy balanced diet should provide you with all the essential nutrients you need.

What should I do if I have lost my appetite?

Eating well is important to help you feel better and cope with any treatment you may need.  Many people find the following can help them to eat more:

• Eating little and often throughout the day
• Eating small nourishing snacks between meals such as cereal and milk, cheese and biscuits, cakes, biscuits, desserts, pastries
• Having a snack, sandwich or a milky drink if you cannot manage your normal meal
• Trying easy to prepare high protein meals such as cheese, scrambled egg, poached egg on toast or omelette
• Using full fat and full sugar versions of foods and drinks such as full fat milk, full fat yoghurt instead of diet or low fat ones
• Trying to eat more on days or at times you feel better
• Spreading butter, margarine ,honey, jam and marmalade thickly on bread, croissants, crumpets
• Adding honey or sugar to cereals and puddings
• If you have diabetes or you are limiting potassium or phosphate speak to your dietitian for more information

100 000 Genomes Project Participant Stories - Emily's Story

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Emily's Story

Emily and her family talk about living with her hearing loss and the impact the participation in the 100 000 genomes project has had on them.  This can be viewed here

The SWGMC team wanted to express our upmost thanks to Emily and her family for taking the time and the courage to share this extremely personal experience and sharing her view of the importance of being involved in projects such as the 100,000 Genomes Project.
 

 

About Patients referred to the 100 000 Genomes project

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About patients referred with a rare disease

  • Participants were referred into the 100,000 Genomes Project by a member of the clinical team responsible for their care
  • Patients were eligible to join the project if diagnosed with a specific rare disease or condition. A full list of the eligible rare conditions can be found on the Genomics England website.
  • Most patients were required to have undergone some genetic testing by their hospital specialist and NHS genetic laboratory service prior to taking part. To be able to take part these test results must have failed to provide a molecular diagnosis for their condition although the patient may have been given a diagnosis based on their clinical presentation.
  • Where possible, other family members with the same condition and/or the patients biological parents were also invited to take part. Looking at the results from family groups helps genetic experts understand the data provided by Whole Genome Sequencing from an individual's DNA.
  • Patients and their families were provided with an information sheet  and seen in special clinics or as part of their routine care to discuss the test. If agreeing to the test, participants were asked to complete a consent form and provide a blood or saliva sample
  • Finding a genetic or molecular diagnosis can help suggest a particular treatment or help understand what having the condition might mean for other family members. However, only some people will get a diagnosis first time round as we are still learning about the human genome. For many people taking part, the main benefits are likely to be for other patients in the future.

 

About patients referred with cancer or suspected cancer

  • Patients were referred into the 100,000 Genomes Project  by a member of the clinical team responsible for their care
  • Patients were eligible to join the project if diagnosed with a specific type of cancer. A full list of eligible cancers  can be found on the Genomics England website .
  • Before being able to take part, patients were provided with an information sheet and seen either as part of their routine care or contacted by a member of the team working with the Genomic Medicine Centres to discuss the test. If agreeing to take part in the Project, participants were asked to complete a consent form.
  • For patients with cancer or suspected cancer, patients were required to donate two samples for Whole Genome Sequencing. A blood sample (germline) to look at how the body normally works and a piece of resected/surgical tissue or biopsy sample (tumour) to understand how the tumour or suspected tumour is different.
  • Not all patients who donated samples were able to have their DNA looked at, as some samples may not have the right number and type of cells for DNA to be sequenced, or if the suspected tumour was confirmed not to be cancerous.
  • Understanding the changes in the genome of a person and their cancer can help suggest a particular treatment or help understand what having this cancer type might mean for other family members. However, results from this project are unlikely to affect current treatment, as patients taking part will already have undergone an appropriate treatment plan by the time a result is issued.  We are still learning about the human genome. For many people taking part, the main benefits are likely to be for other patients in the future.

SW Genomic Medicine Service - contact for 100,000 Genomes Project

SWGLH Rare Disease Team Contact Exeter Lab Team

Return of results from the 100,000 Genomes Project: Main Findings, Additional Findings and Reproductive Findings

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Main Findings

These are findings which are looked for because they are relevant to the condition or disease for which the patient joined the project. These findings are changes, or variants, in a person’s genomic sequence. The changes could be relevant to the explanation, diagnosis or treatment of a person’s rare disease or cancer.

There are two types of report issued by the South West and West of England Genomic Medicine Centres for Main Findings:

  • ‘No findings’ letter—this will explain that on this occasion, an analysis of the data has not found a genetic cause for the patient’s condition
  • Genomics report -This will explain the findings from any analysis where it is believed that they could be relevant to the patient’s clinical presentation

 

Additional Findings

All participants in the 100,000 Genomes Project were given the option to have their genome looked at for a small number of gene changes not  related to the reason they took part in the project. These ‘looked for’ gene changes have been recognised to benefit patient care by enabling the participant to benefit from an early screening program or other health intervention. There are only a small number of currently ‘looked for’ genes but the list can change over time. The list of ‘additional findings’ will change over time, and the latest list can be found on the Genomics England website.

 

Carrier Testing or Reproductive Findings

Participants in the 100,000 Genomes Project were given the option to agree to have their genome looked at for gene changes, not related to the reason they had come into the project but which could affect future children. If someone has such a change, they are said to be a ‘carrier’ and it is unlikely to affect their own health. Not all participants will be able to receive carrier findings; for some conditions, results will only be looked for if both members of a couple are taking part in the project. 


The list of carrier findings will change over time and the latest list can be found on the Genomics England website.

 

Help and Support

  • Please note your clinical team will contact you about your result. Main Findings will be returned to the clinician who referred the patient or family to the project.
  • If you have been consented on to the project and you would like to know the status of your sequencing, please visit Genomics Englands' trackmysample tool
  • If you change your mind about whether or not you want to receive Additional findings and Carrier (reproductive) findings, you can contact your GMC team to discuss this further, or download an ’opt in’ or ’opt out’ form  from the Genomics England website.
  • If you have any questions about taking part or your result, please contact your clinical team or GMC team, of which contact information is on top right of this page

SW Genomic Medicine Service - contact for 100,000 Genomes Project

SWGLH Rare Disease Team Contact Exeter Lab Team