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Genetics 101

Genetics is a highly complex subject covering many disciplines, but by understanding some basic terms you will be able to easily understand your report. Our reports are consumer friendly, but just in case we have compiled a list of common terms to help you.

Understanding The Importance Of Your DNA

Every one of the seven billion plus humans on earth is unique. No two individuals are physically identical, have the exact same personalities, nor the same preferences. What is unique is every individual’s DNA. Even though 99.9% of the world’s population share the same genetic makeup, the 0.1% that is different between individuals is immensely significant. This one tenth of one percent determines a wide range of traits covering everything from how likely it is to develop a degenerative disease, to how strong an individual’s craving is for sweets.

Cells

A cell is the basic building block of living things. An adult human body is estimated to contain between 10 and 100 trillion cells.
Nucleus

The Nucleus is the portion of the cell that contains the majority of the cell’s genetic material.

Genes

A gene is the basic physical unit of inheritance. Genes are passed from parents to offspring and contain the necessary information to specify traits. Humans have approximately 20,000 genes arranged on their chromosomes.

Chromosomes

A chromosome is an organised package of DNA found in the nucleus of the cell. Different organisms have different numbers of chromosomes. Humans have 23 pairs of chromosomes, 22 pairs of numbered chromosomes (called autosomes), and one pair of sex chromosomes (X and Y). Each parent contributes one chromosome to each pair so that offspring get half of their chromosomes from their mother and half from their father.

DNA

DNA, which is short for deoxyribonucleic acid, is the molecule that carries genetic instructions in all living things. The DNA molecule consists of two strands that wind around one another to form a shape known as a double helix. DNA is comprised of four nucleotides which you may recall from biology class. These four nucleotides are adenine (A), cytosine (C), guanine (G), and thymine (T).

SNP (Commonly Pronounced As Snip)

Single nucleotide polymorphisms (SNPs) are a type of polymorphism that are responsible for many of the differences in individuals. Polymorphism is simply a scientific term indicating that there are potential differences between individuals. These differences are commonly referred to as variants. In the human genome these variants correlate to everything from what is the best diet to eat, to how certain medications will work, and how likely an individual is to develop certain illnesses.

Allele

An allele is one of two or more versions of a gene. An individual inherits two alleles for each gene, one from each parent. If the two alleles are the same, the individual is homozygous for that gene. If the alleles are different, the individual is heterozygous.

RNA

RNA, which is short for ribonucleic acid, is another amolecule found in cells and provides a wide range of functions extending from communicating instructions at a cellular level to aiding in creating the proteins required for cellular growth and reproduction.

Genotype

A genotype is an individual’s collection of genes. The genotype is expressed when the information encoded in the DNA of the cell is used to make protein and RNA molecules. The physical expression of the genotype contributes to the individual’s observable traits – this in turn is called the phenotype.

Recap

Working from the largest component to the smallest, here is how all the aforementioned information ties together.

Cell (contains a nucleus) ‐ > Chromosomes (contained within the nucleus) ‐> DNA (make up the chromosomes) ‐> Gene (a specific section of DNA) ‐> SNP (a specific nucleotide within the gene)

SCIENTIFIC EVIDENCE – references by topic

Nutrigenomics

Supporting Stats & Forward Statements w/references:
  • People on genetically appropriate diets lose more weight. [1] [2]
  • Following a genetically appropriate diet can reduce your risk of heart disease, diabetes, stroke, and common nutrition related morbidities. [3] [4] [5]
  • Discover if you have a genetic predisposition for Gluten sensitivity. [6] [7]
  • Understand how your genes influence exercise to get the most from your workouts. [8] [9]
  • Find out what type of exercise is best for you based on your genes. [10] [11] [12]
  • More than 2.1 billion people—close to 30 percent of the global population—today are overweight or obese. [13] [14]

Cardiac

Supporting Stats & Forward Statements w/references:
  • Cardiovascular diseases (CVDs) are the number 1 cause of death globally. [15]
  • 50% of the susceptibility for coronary artery disease (CAD) is due to predisposing genetic factors [16]
  • Understanding how your genes influence your heart health can help you reduce your risk for developing CVDs [17] [18] [19] [20] [21]

Hereditary Cancer

Supporting Stats and Forward Statements w/references:
  • Understanding these predispositions can aide prevention and early detection efforts greatly improving odds for survival. [22] [23]
  • 42% of all UK cancer cases are preventable. [24]
  • The lifetime risk of developing bowel cancer is 1 in 14 for men and 1 in 19 for women, in 2012 in the UK. [25]
  • Personal risk awareness is the first step towards early detection. Cancer survival rates triple with early detection. [26]

Gut/Microbiome

Supporting Stats and Forward Statements w/references:
  • IBS affects 10-20% of people living in the UK. [27]
  • Crohn's Disease and Ulcerative Colitis are the two main forms of Inflammatory Bowel Disease, affecting more than 300,000 people in the UK. [28]
  • The gut microbiota plays a significant role in the development of obesity, obesity-associated inflammation and insulin resistance. [29]
  • Optimise gut health and manage gut based illness drivers related to inflammatory bowel disease and obesity. [30] [31]

SCIENTIFIC EVIDENCE – references by country

UK
  • Obesity has the second-largest (economic) impact after smoking, generating a loss of more than $70 billion a year in 2012, or 3.0 percent of GDP. [32]
  • The total impact on employers is $7 billion. Of this, $5 billion, or more than two-thirds, comes from decreased productivity in the workplace rather than outright absenteeism. In the United Kingdom, higher health-insurance premiums are not a major issue for employers because of the central role of public health through the NHS. By contrast, in the United States higher insurance premiums could contribute as much as $7.7 billion of our $18.9 billion to $21.9 billion overall estimate of the cost of obesity to employers. [33]
  • The NHS spends 10 percent of its total budget on treating diabetes, 80 percent of which we can attribute to treating the complications of unmanaged diabetes. These are costs that could be reduced with better management through changes in lifestyle. [34]
  • Around 42,000 people under the age of 75 in the UK die from CVD each year. [35]
  • Cardiovascular diseases (CVDs) are the number 1 cause of death globally. [36]
  • 50% of the susceptibility for coronary artery disease (CAD) is due to predisposing genetic factors. [37]
  • Breast cancer is the most common cancer in the UK (2014). [38]
  • The lifetime risk of developing bowel cancer is 1 in 14 for men and 1 in 19 for women, in 2012 in the UK. [39]
  • 356,860 New cases of cancer in the UK in 2014. [40]
  • 163,644 Deaths from Cancer in the UK in 2014. [41]
  • 42% of all UK cancer cases preventable. [42]
  • Breast cancer was the most common cancer diagnosed in 2015, with 46,083 cases registered; 45,764 of which were registered to females, accounting for nearly 1 in 3 (31.2%) of female cancer registrations. The age-standardised incidence rate for breast cancer has increased from 163.6 in 2005 to 170.2 cases per 100,000 females in 2015. [43]
  • In 2015, “breast (15.4%), prostate (13.4%), lung (12.5%) and colorectal (11.6%) cancer continue to account for over half of the malignant cancer registrations in England for all ages combined.” [44]
  • Prostate cancer was the most common cancer diagnosed in males in 2015 with 40,331 cases registered, which accounted for 1 in 4 (26.3%) male cancer registrations. The age-standardised cancer incidence rate for prostate cancer has increased from 166.5 in 2005 to 176.4 cases per 100,000 males in 2015. [45]
UAE
  • 36.1% of the population are in the pre-obesity stage (or overweight according to the classification of WHO for the body mass index). [46]
  • 11.9% suffer from obesity (22.5% for Emiratis and 11.5% for non-Emiratis). [47]
  • 18.9% Emirati citizens have hypertension (20.0% males and 18.0% females). [48]
  • 19.8% of male Emiratis and 18.5% of the total Emirati females suffer from high cholesterol or lipids. [49]
  • 4.7% of the total population of Dubai suffer from high cholesterol or lipids. [50]
  • In 2014 Cardiovascular Diseases account for 30% of all deaths in UAE for people between the ages of 30-70 years old. [51]
  • In 2014 Cancers accounted for 13% of all deaths in the UAE for people between the ages of 30-70 years old. [52]
  • >85% of UAE citizens suffer from Vitamin-D deficiency [53]
  • Cancer is the third leading cause of death in the Emirate of Abu Dhabi. It is the third among nationals and the third among expatriates. It accounts for 16% of total deaths. [54]
  • There were around 427 deaths caused by cancer in 2015, 35% were nationals and 65% were expatriates. [55]
  • 44% of death were females and 56% were males. [56]
  • The top five Leading causes of death among cancers in men (in order of frequency) are Lung, Colorectal, Liver, Leukemia and Pancreas. [57]
  • The top five Leading causes of death among cancers in Women (in order of frequency) are breast, Colorectal, Leukemia, Ovary, and Lung. [58]
Thailand
  • In Thailand, the health care cost attributable to obesity was estimated at 5,584 million baht or 1.5% of national health expenditure. [59]
  • The cost of productivity loss attributable to obesity was estimated at 6,558 million baht - accounting for 54% of the total cost of obesity. [60]
  • The cost of hospital-related absenteeism was estimated at 694 million baht, while the cost of premature mortality was estimated at 5,864 million baht. [61]
  • The total cost of obesity was then estimated at 12,142 million baht (725.3 million US$PPP, 16.74 baht =1 US$PPP accounting for 0.13% of Thailand’s Gross Domestic Product (GDP). [62]
  • Cardiovascular disease accounted for more than 20% of all deaths in Thailand. (The Impact of Chronic Diseases in Thailand. [63]
  • The majority of Thai women diagnosed with breast cancer are already in stage 3 or 4. This indicates that early detection technologies like hereditary cancer screenings are vital for the future detection and prevention. [64]
Hong Kong
  • 79.2% of people aged 18 - 64 consumed less than 5 servings of fruit and/or vegetable per day, with 74.8% for females and 84.2% for males. [65]
  • The Behavioural Risk Factor Survey conducted in April 2016 revealed that more than a quarter (28.0%) of adult aged 18 - 64 had not done any moderate or vigorous physical activity for at least 10 minutes at a time and only less than half (44.6%) had done some vigorous physical activity during the week before enumeration. [66]
  • The Behavioural Risk Factor Survey April 2016 revealed that 38.8% of the population aged 18 - 64 were classified as overweight or obese (BMI ≥ 23.0), including 20.7% as obese. [67]
  • 48.2% of males and 30.5% of females were classified as overweight or obese in 2015. [68]
  • People aged 55 - 64 had the highest rate (49.4%) of overweight or obesity. [69]
  • In 2015 Cardiac deaths accounted for 13.2% of all deaths in Hong Kong. [70]
  • Heart diseases have been the third leading cause of death in Hong Kong since 1960s. [71]
  • Coronary heart disease was the dominating component, making up 66.6% of heart diseases deaths. [72]
  • Colorectal cancer has been the second leading cause of cancer death in Hong Kong for years. [73]
  • In 2015, 2,073 persons died from colorectal cancer, accounting for 14.5% of all cancer deaths. [74]
  • Breast cancer was the sixth leading cause of cancer death in Hong Kong in 2015. [75]
  • In 2015, breast cancer accounted for 4.4% of all cancer deaths. [76]

SCIENTIFIC EVIDENCE – references By Gene/Mutation

APC in colorectal cancer
  • Jasperson KW, Tuohy TM, Neklason DW, Burt RW. Hereditary and familial colon cancer. Gastro. 2010 Jun;138(6):2044-58.
  • Giardiello FM, Offerhaus GJ, Lee DH, et al. Increased risk of thyroid and pancreatic carcinoma in familial adenomatous polyposis. Gut. 1993;34(10):1394-6.
CDH1 in stomach cancer
  • Hansford S, Kaurah P, Li-chang H, et al. Hereditary Diffuse Gastric Cancer Syndrome: CDH1 Mutations and Beyond.JAMA Oncol. 2015;1(1):23-32.
  • Pharoah PD, Guilford P, Caldas C. Incidence of gastric cancer and breast cancer in CDH1 (E-cadherin) mutation carriers from hereditary diffuse gastric cancer families. Gastroenterology. 2001;121(6):1348-53.
BRCA1 in breast cancer
  • King MC, Marks JH, Mandell JB. Breast and ovarian cancer risks due to inherited mutations in BRCA1 and BRCA2.Science. 2003;302(5645):643-6.
CDKN2A in melanoma
  • Begg CB, Orlow I, Hummer AJ, et al. Lifetime risk of melanoma in CDKN2A mutation carriers in a population-based sample. J Natl Cancer Inst. 2005;97(20):1507-15.
  • Bishop DT, Demenais F, Goldstein AM, et al. Geographical variation in the penetrance of CDKN2A mutations for melanoma. J Natl Cancer Inst. 2002;94(12):894-903.
  • Goldstein AM, Chan M, Harland M, et al. High-risk melanoma susceptibility genes and pancreatic cancer, neural system tumors, and uveal melanoma across GenoMEL. Cancer Res. 2006;66(20):9818-28.
CDKN2A in pancreatic cancer
  • Goldstein AM, Chan M, Harland M, et al. High-risk melanoma susceptibility genes and pancreatic cancer, neural system tumors, and uveal melanoma across GenoMEL. Cancer Res. 2006;66(20):9818-28.
  • McWilliams RR, Wieben ED, Rabe KG, et al. Prevalence of CDKN2A mutations in pancreatic cancer patients: implications for genetic counseling. Eur J Hum Genet. 2011;19(4):472-8.
MLH1 in uterine cancer:
  • Bonadona V, Bonaïti B, Olschwang S, et al. Cancer risks associated with germline mutations in MLH1, MSH2, and MSH6 genes in Lynch syndrome. JAMA. 2011;305(22):2304-2310.
  • Dowty JG, Win AK, Buchanan DD, et al. Cancer risks for MLH1 and MSH2 mutation carriers. Hum Mutat. March 2013;34(3):490-7.
  • Barrow E, Robinson L, Alduaij W, et al. Cumulative lifetime incidence of extracolonic cancers in Lynch syndrome: a report of 121 families with proven mutations. Clin Genet. 2009 Feb;75(2):141-9.
BRCA1 in ovarian cancer:
  • King MC, Marks JH, Mandell JB. Breast and ovarian cancer risks due to inherited mutations in BRCA1 and BRCA2. [77]
  • SEER Stat Fact Sheets: Breast Cancer. Published November 2013. [78]
  • SEER Stat Fact Sheets: Colon and Rectum Cancer. Published November 2015. Updated April 2016. Accessed April 28, 2016. [79]
  • Moller P, Hagen AI, Apold J, et al. Genetic epidemiology of BRCA mutations--family history detects less than 50% of the mutation carriers. [80]
  • Weitzel JN, Lagos VI, Cullinane CA, et al. Limited family structure and BRCA gene mutation status in single cases of breast cancer. JAMA. 2007;297(23):2587-95.
  • Gabai-Kapara E, Lahad A, Kaufman B, et al. Population-based screening for breast and ovarian cancer risk due to BRCA1 and BRCA2. [81]
  • King MC, Levy-Lahad E, Lahad A. Population-based screening for BRCA1 and BRCA2: 2014 Lasker Award. [82]

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